| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Tricho-Dento-Osseous Syndrome |
|
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... |
ORPHA:3352 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic... |
ORPHA:2722 |
| Tooth Agenesis, Selective, 3 |
|
Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal fingernail morphology, Abnorm... |
OMIM:604625 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Dermoodontodysplasia |
|
Mandibular prognathia, Sparse scalp hair, Melanocytic nevus, Tooth agenesis, Thin skin, Fingernai... |
ORPHA:1660 |
| Incontinentia Pigmenti |
|
Ridged nail, Conical tooth, Abnormality of skin pigmentation, Oligodontia, Coarse hair, Sparse ha... |
OMIM:308300 |
| Dermoodontodysplasia |
|
Nail dysplasia, Hypodontia, Thin skin, Trichodysplasia |
OMIM:125640 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary teeth, Abno... |
ORPHA:1810 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Slow-growing hair, Abnormality of ... |
ORPHA:238468 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the skin, Wide nasal bridge, Wide mouth, Sparse ... |
ORPHA:1231 |
| Thumb Deformity And Alopecia |
|
Solitary median maxillary central incisor, Alopecia, Increased groin pigmentation with raindrop d... |
OMIM:188150 |
| Trichodentoosseous Syndrome |
|
Abnormal hair morphology, Taurodontia, Widely spaced teeth, Microdontia, Fragile nails |
OMIM:190320 |
| Parc Syndrome |
|
Microretrognathia, Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate |
OMIM:600331 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth, Oligodont... |
ORPHA:1264 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Micrognathia, Wide nasal bridge, Skin dimple, Thin vermilion border, Short philtrum,... |
ORPHA:261304 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Melanoc... |
ORPHA:1008 |
| Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Hypermelanotic macule, Abnormal nipple morphology, Carious teeth, Abnorma... |
ORPHA:69125 |
| Candidiasis, Familial, 1 |
|
Alopecia, Premature loss of teeth |
OMIM:114580 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars... |
OMIM:616788 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to... |
ORPHA:2228 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Acrogeria |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Micrognathia, Skin ulcer, Fine hair, Thin skin, Irre... |
ORPHA:2500 |
| Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin... |
ORPHA:2222 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal fingernai... |
ORPHA:2325 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro... |
ORPHA:2026 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Microdontia, Sparse hair, Bifid uvula, Cleft upper lip,... |
OMIM:129400 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Oral mucosal blis... |
ORPHA:79397 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Premature loss of primary teeth, Widely spaced ... |
OMIM:617364 |
| Filippi Syndrome |
|
Cryptorchidism, Optic atrophy, Hypertrichosis, Wide nasal bridge, Thin vermilion border, Short ph... |
OMIM:272440 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Abnormality of the dentition, Absent eyelashes, Flexion co... |
ORPHA:90153 |
| Flynn-Aird Syndrome |
|
Alopecia, Carious teeth, Alopecia of scalp, Dermal atrophy, Rod-cone dystrophy |
OMIM:136300 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
| Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Abnormality of the dentition, Hypoplastic toenails, Absent thumbnail, Oligodontia, Absent toenail... |
ORPHA:79499 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary t... |
ORPHA:248 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophrys, Pierre-Rob... |
ORPHA:364577 |
| Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Micrognathia, High, narrow palate, Supernumerar... |
ORPHA:1787 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit... |
ORPHA:978 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia, Amelogenesis imperfecta |
ORPHA:79129 |
| W Syndrome |
|
Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of the scalp hair... |
ORPHA:2804 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Abnormality of skin pigmentation, Atrophic sca... |
ORPHA:79402 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Dental crowding, Lipoatrophy, Increased s... |
ORPHA:2457 |
| Adult Syndrome |
|
Premature loss of permanent teeth, Sparse scalp hair, Absent nipple, Fair hair, Freckling, Sparse... |
OMIM:103285 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Abnormal dental morphology, Camptodactyly of finger, Hyperpigmentation of the skin, Hyp... |
ORPHA:2251 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Elevated circulating luteinizing hormone level, Hypoplasia of the maxilla,... |
ORPHA:3044 |
| Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the skin, Abnormal fingernail morpholo... |
ORPHA:742 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Reticulated skin pigmentation, Premature loss of teeth, Hypopigmentation of the skin, Subungual h... |
ORPHA:69087 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Flexion contr... |
ORPHA:75496 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Dermal atrophy, Alopecia of scalp, Hypopigmentation of the ... |
OMIM:617294 |
| Limb-Mammary Syndrome |
|
Alopecia, Psoriasiform dermatitis, Absent nipple, Freckling, Cleft hard palate, Cleft lip, Sparse... |
ORPHA:69085 |
| 19Q13.11 Microdeletion Syndrome |
|
Wide intermamillary distance, Supernumerary nipple, Cryptorchidism, Fine hair, Wide mouth, Sparse... |
ORPHA:217346 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T... |
OMIM:166750 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipo... |
ORPHA:2348 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cr... |
ORPHA:3363 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp... |
ORPHA:251393 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Cleft p... |
ORPHA:1812 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Microdon... |
OMIM:305100 |
| Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Thin upper lip vermilion, Breast aplasia, Smooth philtrum |
OMIM:612242 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Abnormal eyebrow morphology, Hypodontia, Generalized hypopigmentation,... |
ORPHA:1816 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, Multiple cafe-au-lait spots, Tooth ... |
ORPHA:570 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Diastema, Agenesis of molar, Supernumerary tooth, Cryptorchidism, Microdontia |
OMIM:619718 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... |
OMIM:141300 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, High palat... |
OMIM:211380 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe... |
OMIM:613573 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Carious teeth, Melanocytic... |
OMIM:612079 |
| Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Sparse axillary hair, Sparse pubic hair, Aplasia/Hypoplasia of the nipples... |
OMIM:181270 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair |
ORPHA:2985 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Micrognathia, Unilateral alveolar... |
ORPHA:2751 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv... |
ORPHA:2025 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Rubinstein-Taybi Syndrome 2 |
|
Thick eyebrow, Highly arched eyebrow, Micrognathia, Carious teeth, Talon cusp, Dental malocclusio... |
OMIM:613684 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel, Alopecia, Flexion contracture |
OMIM:203550 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormality of the dentition, Absent eyelashes, Abno... |
OMIM:607823 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Carious teeth, Yellow nails, Breast carcinoma, Conical incisor, Onycholysi... |
OMIM:614564 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Hypodontia, Nail ... |
OMIM:226650 |
| Chand Syndrome |
|
Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi... |
ORPHA:1401 |
| Bullous Lichen Planus |
|
Breast aplasia, Papule |
ORPHA:33408 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Spotty hyperpigmentation, Low anterior hairline, Spotty hypopigmentation, Downt... |
ORPHA:79133 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Abnormal dental morpholog... |
ORPHA:1897 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Joubert Syndrome 10 |
|
Deep philtrum, Wide nasal bridge, Thick vermilion border, Molar tooth sign on MRI, Rod-cone dystr... |
OMIM:300804 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Supernumerary tooth, Submucous cleft hard palate, Thick lowe... |
OMIM:617412 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Macular hyperpigmented dermopathy, Dental enamel pits, Carious teeth, Scarring alopecia of scalp,... |
OMIM:619787 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Narrow mouth, Patent ductus arteriosus, Cryptorchidism, Cleft palate, Thin vermili... |
OMIM:615502 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth, Nail dysplasia, Hypoplastic nipples, Breast hypoplasia |
OMIM:129550 |
| Marshall-Smith Syndrome |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Thin skin, Open mouth, Retrognathia, Gener... |
ORPHA:561 |
| Zimmermann-Laband Syndrome |
|
Generalized hyperpigmentation, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft pa... |
ORPHA:3473 |
| Ulnar-Mammary Syndrome |
|
Abnormal fingernail morphology, Camptodactyly of finger, Hypoplastic toenails, Cryptorchidism, Br... |
ORPHA:3138 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormality of the dentition, Aplasia/... |
ORPHA:2036 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Hyperpigm... |
ORPHA:89838 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... |
OMIM:150400 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Micrognathia, ... |
ORPHA:1899 |
| Glass Syndrome |
|
Inguinal hernia, Dental crowding, Conical tooth, Micrognathia, Long nose, Pierre-Robin sequence, ... |
OMIM:612313 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Preauricular pit, Alopecia, Accessory oral frenulum, Hyperpigmented papule, Flexion contracture, ... |
ORPHA:88630 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Camptodactyly of finger, Cigarette-paper scars, Dental malocclusion, H... |
OMIM:612350 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormality of the dentition, Micrognathia, Abnormal hair morphology, Generalized lipod... |
ORPHA:90154 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Subcutaneous nodule, Abnormality of skin pigmentation, Chorioret... |
ORPHA:2092 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... |
ORPHA:3353 |
| Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Wide nasal bridge, Downturned... |
OMIM:618729 |
| Cranioectodermal Dysplasia |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:1515 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Decreased response to growth hormone stimulation test, Long eyeb... |
OMIM:275400 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Sparse hair, Smoot... |
OMIM:190351 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... |
ORPHA:2863 |
| Mandibulofacial Dysostosis With Alopecia |
|
Preauricular pit, Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth,... |
OMIM:616367 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Microretrognathia, Patent ductus arteriosus, Breast aplasia |
ORPHA:276413 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Intellectual Disability, Birk-Barel Type |
|
Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Microgn... |
ORPHA:166108 |
| Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology... |
ORPHA:3019 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of the dentition, Absent... |
OMIM:612841 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Thin upper lip vermilion, Sparse scalp hair, Thick eyebrow, Abnormality of the dentition, Supernu... |
ORPHA:502 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Notched primary central incisor, High anterior hairline, Sparse scalp hair |
OMIM:620062 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Sparse eye... |
ORPHA:77258 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Aplasia/Hypopl... |
ORPHA:280365 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... |
ORPHA:181 |
| Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Hirsutism, Hyperconvex thumb nails, Absent lower e... |
OMIM:620370 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Abnormal optic chiasm morphology, Sacral dimple, Retinal detachment, Inguinal hernia, Cleft soft ... |
ORPHA:268261 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysplas... |
OMIM:226700 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow... |
OMIM:601345 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Hyperconvex fingerna... |
ORPHA:257 |
| Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen... |
ORPHA:3214 |
| Zimmermann-Laband Syndrome 3 |
|
Thick hair, Synophrys, Thick lower lip vermilion, Low anterior hairline, Gingival overgrowth, Pat... |
OMIM:618658 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Sparse hair, Dystrophic fingernails, Anodontia, Wide intermamillary dist... |
ORPHA:3253 |
| Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair morphology, Subcu... |
ORPHA:2028 |
| Pachyonychia Congenita |
|
Natal tooth, Alopecia, Epidermoid cyst, Angular cheilitis, Paronychia, Onychogryposis of toenails... |
ORPHA:2309 |
| Flynn-Aird Syndrome |
|
Alopecia, Carious teeth, Skin ulcer, Dermal atrophy, Rod-cone dystrophy |
ORPHA:2047 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormal fingernail morphology, Abnormality of the dentition, Conical tooth, Hypoplastic toenails... |
ORPHA:952 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... |
OMIM:602400 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia of the maxilla,... |
OMIM:610829 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Skin erosion, Abnormality of the subungual region, Abnormal... |
ORPHA:79411 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Bloom Syndrome |
|
Cryptorchidism, Spotty hypopigmentation, Agenesis of maxillary lateral incisor, Malar flattening,... |
OMIM:210900 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Dental crowding, Congenital diaphragmatic hernia, Carious teeth, L... |
OMIM:617602 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Alopecia totalis, Aplasia cutis congenita, Absent fingernail, Neonatal death, Skin e... |
OMIM:609638 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Lipoatrophy, Micrognathia, Hypoplasia o... |
OMIM:601812 |
| 14Q11.2 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Highly arched eyebrow, Micrognathia, Deep philtrum, Patent ductus arteri... |
ORPHA:261120 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Septo-optic dysplasia, Anterior pituitary hypoplasia, Micrognathia, Synoph... |
OMIM:619841 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... |
ORPHA:659 |
| Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Abnormal hair morphology, Absent retinal pigment epithelium, Patent ductus arteriosus, Malar flat... |
OMIM:122430 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Carious teeth, Scarring alopecia of scalp, Sparse eyebrow, Nail dystr... |
OMIM:612843 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Dental crowding, Decreased ... |
OMIM:608612 |
| Hypomelanosis Of Ito |
|
Alopecia, Macular hypopigmented whorls, streaks, and patches, Thick lower lip vermilion, Irregula... |
OMIM:300337 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Micrognathia, Premature graying of hair, High palate, Sparse hair, Microdo... |
OMIM:268400 |
| Monosomy 18P |
|
Wide intermamillary distance, Alopecia, Micrognathia, Carious teeth, Wide nasal bridge, Cleft pal... |
ORPHA:1598 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft lip, Cleft palate, Nail dystrophy... |
ORPHA:2890 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Cryptorchi... |
ORPHA:2554 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Hypodontia, Sparse hair, Aplasia/Hyp... |
ORPHA:50944 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the... |
OMIM:129500 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, Sparse hair |
ORPHA:2266 |
| Silver-Russell Syndrome 2 |
|
Downturned corners of mouth, Thin skin, Micrognathia |
OMIM:618905 |
| Gapo Syndrome |
|
Alopecia, Epidermoid cyst, Sparse eyelashes, Micrognathia, Sparse eyebrow, High, narrow palate, R... |
OMIM:230740 |
| Short Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Lipoatrophy, Micrognathia, Absence of ... |
OMIM:269880 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Spotty hypopigmentati... |
OMIM:619719 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormality of the dentition, Abnorm... |
OMIM:614929 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Open mouth, Highly arched eyebrow |
OMIM:618763 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
| Nance-Horan Syndrome |
|
Mandibular prognathia, Retinal detachment, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Cheilitis, Aplasia/Hypoplasia of the eyebr... |
ORPHA:129 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi... |
OMIM:601957 |
| Renpenning Syndrome |
|
Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Decreased testicular size, Macrod... |
ORPHA:3242 |
| Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Optic disc pallor, Micrognathia, Diastema, Carious teeth, Sparse eyebro... |
OMIM:244450 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Deep philtrum, Coarse hair, High palate, Widely spaced teeth, Sparse hair, Bifid uvula, Long phil... |
OMIM:617506 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Inguinal he... |
OMIM:614607 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Cryptorchidism, Patent ductus arteriosus, Thick lower lip vermilion, F... |
OMIM:619797 |
| Ane Syndrome |
|
Alopecia, Multiple joint contractures, Lipoatrophy, Decreased response to growth hormone stimulat... |
ORPHA:157954 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
| Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy, Congenital localized absence of skin, Oral mucosal blisters |
OMIM:132000 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Erythematous plaque, Thin skin, Dermal atrophy, Dystr... |
ORPHA:158673 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Protruding tongue, Synophrys, Widow's peak, Everted lower lip vermilion, H... |
OMIM:617804 |
| Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Thick eyebrow, Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wi... |
OMIM:614608 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Highly arched eyebrow, Diastema, Deep philtrum, Talon cusp, Synophrys, Optic atrophy, Cleft palat... |
OMIM:605282 |
| Nicolaides-Baraitser Syndrome |
|
Wide intermamillary distance, Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pat... |
ORPHA:3051 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Inguinal hernia, Cryptorchidism, Ocular albinism, Thin skin, Narrow mou... |
ORPHA:2719 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Chorioretinal coloboma,... |
OMIM:234100 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Hypoplasia of the ma... |
ORPHA:920 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair patt... |
ORPHA:1807 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deep-set nails, Micrognathia, Wide nasal bridge, High palate, Short philtrum, Thin skin, Narrow m... |
OMIM:201170 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Abnormal hair morphology, Supernumerary tooth, Patent ductus arteriosus, Thin vermilion border, T... |
ORPHA:86818 |
| Odontomicronychial Dysplasia |
|
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Thin na... |
ORPHA:1811 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Cryptorchidism, Thin skin, Narrow mouth, Sparse hair, Umbilical hernia |
OMIM:219150 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G... |
ORPHA:2980 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal fingerna... |
ORPHA:3220 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Micrognathia, Low anterior hairline, Optic atrophy, Lateral ventricle dilatation, Small... |
OMIM:614219 |
| De Barsy Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Narrow mouth, Patent ductus arteriosus... |
ORPHA:2962 |
| Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the skin, Sparse eyelashes, Abnormal dental enam... |
ORPHA:2909 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Sparse eyeb... |
ORPHA:884 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Cryptorchidism, Synophrys, Wide nasal bridge, Downturned corners of mou... |
OMIM:618067 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Carious teeth, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Premature... |
OMIM:616353 |
| Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin, Micrognathia, Abnormal mandible morphology, Irregular hyperpigmen... |
ORPHA:1214 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Highly arched eyebrow, Persistence of primary teeth, Micrognathia, Thick lower l... |
OMIM:618342 |
| Estrogen Resistance |
|
Breast aplasia, Polycystic ovaries |
OMIM:615363 |
| Temple-Baraitser Syndrome |
|
Tented upper lip vermilion, Hypoplastic thumbnail, Low anterior hairline, High palate, Gingival o... |
ORPHA:420561 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Cleft palate, Abnormal toenail morphology, Abnormality of the nail, Papule |
ORPHA:494 |
| Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... |
ORPHA:1133 |
| Lowry-Maclean Syndrome |
|
Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... |
ORPHA:2409 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Sparse eyelashes, Micrognathia, Hypoplasia of the max... |
OMIM:257850 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis, De... |
ORPHA:525 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Alopecia, Sparse eyelashes, Micrognathia, Abnormality of the dentition, High, narrow... |
ORPHA:2108 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Focal dermal aplasia/hypoplasia, Cryptorchidism, Cleft palate, Agenesis of corpus callosum |
OMIM:164180 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the dentition, Open bite... |
ORPHA:2907 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Micrognathia, Flexion contracture, Cleft palate, Malar flattening |
OMIM:215100 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Wide... |
ORPHA:2107 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Sacral dimple, Camptodactyly of finger, Highly arched eyebrow, Open bite, ... |
ORPHA:1327 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor... |
ORPHA:573 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Wide intermamillary distance, Highly arched eyebrow, Congenital diaphragmatic ... |
OMIM:300887 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
| Orofaciodigital Syndrome I |
|
Dry hair, Lobulated tongue, High palate, Sparse hair, Agenesis of corpus callosum, Microretrognat... |
OMIM:311200 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Skin tags, Conical tooth, Micrognathia, Supernumerary tooth, Synophrys, Wide nasal bridge, Widely... |
ORPHA:90024 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... |
OMIM:619736 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Hypoplasia of the pons, Cryptorchidism, Dental malocclusion, Fine hair, Macrodont... |
OMIM:616202 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... |
OMIM:129900 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Abnormality of p... |
OMIM:257980 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... |
OMIM:617337 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
| Leydig Cell Hypoplasia |
|
Testicular gonadoblastoma, Increased circulating gonadotropin level, Cryptorchidism, Hypoplasia o... |
ORPHA:755 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Hypoplasia of ... |
OMIM:106260 |
| Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism... |
ORPHA:1193 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Meier-Gorlin Syndrome 7 |
|
Cryptorchidism, Cleft palate, Breast aplasia, High palate, Thin eyebrow, Narrow mouth |
OMIM:617063 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Carious teeth, Absent eyelashes, Cleft palate, Multiple cafe-au-lait sp... |
ORPHA:2316 |
| Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Decreas... |
OMIM:216550 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Erythrokeratodermia Variabilis |
|
Macule, Alopecia, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Irreg... |
ORPHA:317 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Preauricular pit, Cleft palate |
OMIM:600252 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipoatrophy, Genera... |
ORPHA:79083 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Wide intermamillary distance, Micrognathia, Carious teeth, Cryptorchid... |
OMIM:214150 |
| Short Syndrome |
|
Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the d... |
ORPHA:3163 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi... |
OMIM:618761 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Retinal detachment, Highly arched eyebrow, Abnormality of the dentitio... |
ORPHA:2712 |
| Pachyonychia Congenita 2 |
|
Natal tooth, Sparse scalp hair, Dry hair, Epidermoid cyst, Angular cheilitis, Subungual hyperkera... |
OMIM:167210 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Abnormal midbrain morphology, Micrognathia, Sparse eyebr... |
ORPHA:444072 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Subcutaneous nodule |
ORPHA:337 |
| Char Syndrome |
|
Supernumerary nipple, Persistence of primary teeth, No permanent dentition, Patent ductus arterio... |
ORPHA:46627 |
| Peters-Plus Syndrome |
|
Short lingual frenulum, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Conical in... |
OMIM:261540 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair, Wide nasal bridge, High palate, Hyperpigmentation of the skin |
ORPHA:50812 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Alveolar bone loss around teeth, Inguinal hernia, Hiatus hernia, Pretibial hyperpigmentation, Atr... |
OMIM:130080 |
| Chime Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Aplasia/Hypoplasia... |
ORPHA:3474 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Optic atrophy, Fine hair, Premature graying of hair, Exudative retinopath... |
OMIM:612199 |
| 48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi... |
ORPHA:10 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Thin ... |
OMIM:614438 |
| Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Micrognathia, Carious teeth, Elbow flexion contracture, Knee flexion contracture, Co... |
OMIM:601559 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Nail dyst... |
OMIM:226600 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Micrognathia, Hyperconvex fingernails, Coarse hair, Widely spaced teeth, Sparse ha... |
ORPHA:1071 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Oral mucosal blisters, Carious teeth, Skin erosion, Localized ski... |
ORPHA:79410 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Abnormality of dental color, Nevus sebaceous, Linear nevus sebaceous, Coloboma, Nevus, ... |
OMIM:163200 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Inguinal hernia, Anterior pituitary hypoplasia, Micrognathia, Abnormality ... |
OMIM:151050 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Macroglossia, Camptodactyly, High palate, Thick vermi... |
OMIM:616354 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Reduced circulating prolactin concentration, Abnormality of the dentition, Pigmentary retinopathy... |
ORPHA:2235 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Congenital diaphragmatic hernia, Abnormality of the dentitio... |
OMIM:304110 |
| Momo Syndrome |
|
Delayed eruption of teeth, Hyperconvex nail, Thick lower lip vermilion, Dental malocclusion, Wide... |
OMIM:157980 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ... |
ORPHA:1979 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Fine hair |
OMIM:272300 |
| Xeroderma Pigmentosum |
|
Macule, Craniofacial hyperostosis, Alopecia, Conjunctival telangiectasia, Hypermelanotic macule, ... |
ORPHA:910 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Brittle hair, Hyperpigmentation of the skin, Hypoplasia of the maxilla... |
ORPHA:50814 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Abnormality of skin pigmentation, Thin skin, Retinopathy |
ORPHA:743 |
| Incontinentia Pigmenti |
|
Orofacial cleft, Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormality of th... |
ORPHA:464 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia, Optic neuritis, Oral ulcer |
OMIM:301080 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Retinal detachment, Tented upper lip vermilion, Delayed eruption of primar... |
ORPHA:819 |
| Even-Plus Syndrome |
|
Highly arched eyebrow, Dysplastic corpus callosum, Synophrys, High palate, Hypodontia, Sparse hai... |
OMIM:616854 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Hy... |
ORPHA:2930 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Multinodular goiter, Hypomelanotic ... |
OMIM:618373 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails... |
ORPHA:1882 |
| Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Slow-growing hair, Thin nail, Micrognathia, ... |
OMIM:190350 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Triangular mouth, Agenesis of corpus callosum, Wide nasal bridge |
ORPHA:166024 |
| Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Naevus flammeus of the eyelid, Dow... |
ORPHA:3107 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Hypoplasia ... |
ORPHA:915 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Dyskeratosis Congenita |
|
Hypoplasia of the maxilla, White hair, Premature graying of hair, Periodontitis, Sparse hair, Ski... |
ORPHA:1775 |
| X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Inguinal hernia, Thin skin, Hernia |
ORPHA:75497 |
| Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Hyperpigmentation in sun-exposed areas, Onycholysis |
OMIM:176100 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Nail dystrophy, Hypodontia, Enamel hypoplasia, Anonychia |
OMIM:616029 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Abnormal hair morphology, Paronychia, Wi... |
ORPHA:2314 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Wide mouth, High palate, Long ... |
OMIM:618825 |
| Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Skin tags, Alopecia, Sparse eyelashes, Microgna... |
ORPHA:2067 |
| Orofaciodigital Syndrome Iii |
|
Hyperconvex nail, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Abnormal testis morphology, Sparse body hair, Apla... |
ORPHA:202 |
| Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Scarring |
ORPHA:346 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic thumbnail, Micrognathia, Hypoplastic toenails, Hypoplastic fifth fingernail, Delayed ... |
OMIM:619356 |
| Kury-Isidor Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Alopecia, Exudative vitreoretinopathy, High palate, Wi... |
OMIM:619762 |
| Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick lower lip vermilion, Narrow mouth,... |
OMIM:613804 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Sparse scalp hair, Retinal dystrophy, Accessory oral frenulum, Micrognathia, Pancreatic cysts, Ro... |
OMIM:266920 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Opt... |
OMIM:618727 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Subcutaneous nodule, Atrophic scars, Dermal atrophy, Nail dystrophy, Abnormal toenail m... |
ORPHA:89843 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Sparse scalp hair, Hypoplastic fifth toenail, Decreased response to gr... |
OMIM:615866 |
| Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
| Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology, Supernumerary tooth, Abnormal pituitary gland morphology, Abnormali... |
ORPHA:314621 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Carious teeth, Hepatic necrosis, Nail pits, Premature graying of hair, Ret... |
OMIM:127550 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair, Abnormality of the dentition |
ORPHA:177 |
| Keutel Syndrome |
|
Alopecia, Optic atrophy, Dermal atrophy, Recurrent sinusitis |
ORPHA:85202 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a... |
OMIM:248370 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Abnormality of the dentition, Conical tooth, Cryptorchidism, Fine hair, Agenesis of cor... |
ORPHA:228390 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Partial agenesis of th... |
OMIM:234050 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingi... |
ORPHA:137834 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thick vermilion border,... |
OMIM:618506 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Everted lower lip vermilion |
OMIM:242510 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Camptodactyly of finger, Thin skin |
ORPHA:1658 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth, Abnormality of the nail |
OMIM:184510 |
| Classic Mycosis Fungoides |
|
Alopecia, Hypopigmented skin patches, Skin ulcer, Irregular hyperpigmentation, Skin plaque, Abnor... |
ORPHA:2584 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Reduced sub... |
OMIM:137940 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Micrognathia, ... |
ORPHA:1901 |
| Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Aplasia/Hypoplasia of the nipples, Orofaci... |
ORPHA:1896 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Stillbirth, Thin skin |
OMIM:259410 |
| Familial Cervical Artery Dissection |
|
Abnormality of connective tissue, Thin skin, Striae distensae |
ORPHA:36382 |
| Joubert Syndrome 3 |
|
Retinal dystrophy, Highly arched eyebrow, Elongated superior cerebellar peduncle, Wide nasal brid... |
OMIM:608629 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Dental crowding, Atrophic scars, High palate, Thin skin, Thick eyebrow |
ORPHA:230851 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorchidism, Patchy alopecia, High palate,... |
ORPHA:85279 |
| Teebi Hypertelorism Syndrome 1 |
|
Preauricular pit, Thin upper lip vermilion, Natal tooth, Hypopigmented macule, Dental crowding, O... |
OMIM:145420 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Brittle hair, Micrognathia, Sparse hair, Abnormality of the nail, Abnormal... |
ORPHA:2710 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
| Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Selective tooth agenesis, Cleft upper lip, Carious teeth, Short nose... |
OMIM:164200 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Pyoderma gangrenosum, Recurrent sinusitis |
OMIM:616576 |
| Meier-Gorlin Syndrome 1 |
|
Hyperconvex nail, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Flexion contracture, C... |
OMIM:224690 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Scarring, Patchy alopecia, Skin erosion, Skin plaque, Papule |
OMIM:247100 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Sparse eyelashes, Short nail, Limb joint contracture, Micrognathia, Absent eyelashes... |
OMIM:275210 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Onychauxis, High palate, Advanced eruption of teeth, Hypertrichosis |
OMIM:262190 |
| Bresek Syndrome |
|
Decreased testicular size, Alopecia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Neonat... |
ORPHA:85284 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Epidermoid cyst, Abnormality of the dentition, Pilomatrixoma, Supernume... |
ORPHA:79665 |
| Atypical Werner Syndrome |
|
Micrognathia, Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, Retinal deg... |
ORPHA:79474 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Alopecia, Abnormal hair pattern, Abnormality of the dentition, Oligodo... |
ORPHA:2315 |
| Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Congenital d... |
ORPHA:1647 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,... |
ORPHA:1366 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Flexion contracture, Sparse body hair, Aplasia/Hypoplasia of the eye... |
ORPHA:2850 |
| Hutchinson-Gilford Progeria Syndrome |
|
Malar flattening, Alopecia, Absence of subcutaneous fat, Micrognathia |
OMIM:176670 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Inguinal hernia, Micrognathia, Absent eyelashes, Rod-cone dystrophy, Cr... |
ORPHA:166035 |
| Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Thin skin, Hernia |
ORPHA:98892 |
| Fetal Encasement Syndrome |
|
Omphalocele, Thin skin, Congenital diaphragmatic hernia |
OMIM:613630 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat... |
OMIM:209885 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Numerous nevi, Multiple joint contractures, Micrognat... |
ORPHA:536471 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Carious teeth, Cryptorchidism,... |
OMIM:607812 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Patent ductus arteriosus, Short nose, Retrognathia, Dentinogenesis imp... |
ORPHA:166272 |
| Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Oligodontia, Bile duct proliferation, Hyp... |
OMIM:607626 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple... |
OMIM:612541 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... |
OMIM:615873 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Abnormality of the dentition, Patent ductus arteriosus, Wide nasal bridge, Cleft p... |
OMIM:300968 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Narrow mouth, Absent axillary hair, Cryptorchidism, Cleft palate, Long ... |
OMIM:601353 |
| Familial Adenomatous Polyposis 1 |
|
Epidermoid cyst, Carious teeth, Supernumerary tooth, Fibroadenoma of the breast, Congenital hyper... |
OMIM:175100 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Supernumerary tooth, High palate, Persistence of primary teeth |
OMIM:619752 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased testicular size, Wide intermamillary distance, Abnormality of the dentition, Cryptorchi... |
ORPHA:432 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Thin vermilion border, High pala... |
OMIM:601853 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Wide intermamillary distance, Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coar... |
ORPHA:75389 |
| Ring Chromosome 12 Syndrome |
|
High, narrow palate, Cryptorchidism, Hirsutism, Webbed neck, Breast hypoplasia, Dystrophic toenail |
ORPHA:1439 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Selective tooth agenesis, Lack o... |
ORPHA:2959 |
| Immunodeficiency 49 |
|
Natal tooth, Psoriasiform dermatitis, Micrognathia, Short philtrum, Umbilical hernia, Agenesis of... |
OMIM:617237 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:99811 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Wide intermamillary distance, Inguinal hernia, Sparse eyelas... |
OMIM:613026 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Frontal balding, Micrognathia, High, narrow palate, Synophrys, Cryptorchidism, Abnormality of den... |
ORPHA:96092 |
| Bartsocas-Papas Syndrome |
|
Median cleft lip, Alopecia totalis, Micrognathia, Hypoplastic toenails, Cleft palate, Sparse or a... |
ORPHA:1234 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Camptodactyly of finger, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, Umbilical hern... |
OMIM:618205 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple, Abnormality of the dentition |
ORPHA:3224 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Agenesi... |
OMIM:264090 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation, Aplasia/Hypoplasia of the skin, Thin skin |
ORPHA:745 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Sparse scalp hair, Sparse eyelashes, Micrognathia, Sparse eyebrow, Hypoplastic toenails |
OMIM:616901 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Gingival overgrowth, Fine hair, Furrowed tongue, Sparse hair |
ORPHA:1839 |
| Geroderma Osteodysplastica |
|
Mandibular prognathia, Malar flattening, Thin skin, Hernia |
ORPHA:2078 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth, Slow-growing nails, Thin nail, Short nail |
OMIM:601319 |
| Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Abnormality of the dentition, Skin ulcer, Oligodontia, Dystrophic... |
ORPHA:1657 |
| Alopecia Antibody Deficiency |
|
Abnormality of dental color, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/... |
ORPHA:1006 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Thin skin |
ORPHA:157965 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Flexion contracture, Everted lower lip vermilion, Nail dystrophy, Nail dysplasia, Spars... |
OMIM:242300 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Highly arched eyebrow, Wide nasal bridge, Pigmentary retinopathy, Molar tooth ... |
OMIM:617121 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Aplasia cutis congenita on trunk or limbs, Alopecia, Hyperpigmentation of the skin, Scarring, Ora... |
ORPHA:79396 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Sparse ax... |
ORPHA:2136 |
| Macs Syndrome |
|
Irregular dentition, Alopecia, Micrognathia, Sparse eyebrow, Cryptorchidism, Gingival overgrowth,... |
OMIM:613075 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C... |
OMIM:268305 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Micrognathia, Gingival overgrowth, Malar flattening, Hirsutism |
OMIM:614592 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sacral dimple, Sparse eyelashes, Sparse scalp hair, Inguinal hernia, Ab... |
ORPHA:544488 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, N... |
OMIM:240300 |
| Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Omphalocele, Absent eyelashes, Short upper lip, Wide mouth, Hypop... |
OMIM:200110 |
| 4H Leukodystrophy |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Abnormality of ... |
ORPHA:289494 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Abnormality of the dentition, Small nail, Long philtrum, Sparse hair, Nail... |
OMIM:614813 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Cryptorchidism, Hirsutism, Gingival overgrowth, Narrow palate, Wide na... |
OMIM:235510 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Epidermoid cyst, Pilomatrixoma, Supernumerary tooth, Fibroadenoma of th... |
ORPHA:247806 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Beaulieu-Boycott-Innes Syndrome |
|
Micrognathia, Carious teeth, Long nose, Velopharyngeal insufficiency, Patent ductus arteriosus, D... |
OMIM:613680 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Flexion contracture, Retinopathy, Micrognathia |
OMIM:617562 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Abnormality of the dentition, Micrognathia, High palate, Recurrent sinusitis |
OMIM:618282 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Carious teeth, Atrophic scars, High palate, Thin skin,... |
ORPHA:536467 |
| Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Highly arched eyebrow, Short nose, Downturned corners of mouth, Everted lower lip vermilion, Wide... |
OMIM:617865 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
| Meier-Gorlin Syndrome 2 |
|
Smooth philtrum, Micrognathia, Narrow mouth, Breast hypoplasia, Camptodactyly |
OMIM:613800 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal hair quantity, Abnormal fingernail morphology, Abnormal oral ... |
ORPHA:289 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Inguinal hernia, Atrophic scars, Thin skin |
OMIM:225320 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Eclabion, A... |
ORPHA:2269 |
| Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Brittle hair, Carious teeth, Bilateral cryptorchidism, Eclabion, Tiger tail banding,... |
OMIM:616395 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Momo Syndrome |
|
Delayed eruption of teeth, Hyperconvex nail, Thick lower lip vermilion, Dental malocclusion, Taur... |
ORPHA:2563 |
| Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Bilateral cryptorchidism, Supern... |
ORPHA:434179 |
| Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Sparse hair, Agenesis of ... |
ORPHA:2750 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Thin upper lip vermilion, Alopecia, Abnormal eyebrow morphology, Sparse facial hair, Streak ovary... |
ORPHA:2232 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Abnormality of hair texture, Synophrys, Abnormality of dermal melanosomes, Dental m... |
ORPHA:73223 |
| Orofaciodigital Syndrome Xv |
|
Wide nasal bridge, Midline notch of upper alveolar ridge, Lobulated tongue, Molar tooth sign on M... |
OMIM:617127 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Thin skin, Striae distensae |
OMIM:225310 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Hirsutism, Thin skin, Striae distensae |
OMIM:219090 |
| Joubert Syndrome 37 |
|
Decreased testicular size, Wide intermamillary distance, Cryptorchidism, Wide nasal bridge, High ... |
OMIM:619185 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Microdontia, Pili torti, Trichorrhexis nodosa, Sparse latera... |
OMIM:261990 |
| Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Patent ductus arteriosus, Wide nasal bridge... |
ORPHA:3241 |
| Microphthalmia, Syndromic 2 |
|
Flexion contracture, Oligodontia, Fused teeth, Laterally curved eyebrow, Contracture of the proxi... |
OMIM:300166 |
| Arterial Tortuosity Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hiatus hernia, Flexion contractur... |
OMIM:208050 |
| Cranioectodermal Dysplasia 4 |
|
Smooth philtrum, Thin vermilion border, Taurodontia, Rod-cone dystrophy, Onychogryposis |
OMIM:614378 |
| Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Advanced eruption of teeth, Iris coloboma, Wide in... |
ORPHA:818 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Erythematous macule, Alopecia, Recurrent sinusitis |
OMIM:615559 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Joint contracture |
OMIM:615704 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... |
OMIM:104100 |
| Becker Nevus Syndrome |
|
Unilateral breast hypoplasia, Nevus |
OMIM:604919 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Spotty hypopigmentation, Nail dystrop... |
ORPHA:1867 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol... |
ORPHA:96263 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Absent eyebrow, Absent eyelashes, Cleft palate, Absent toenail, Absent fingernail, C... |
ORPHA:158687 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Sparse axillary hair, Micrognathia, Hypoplasia of the maxilla, Sparse pubic ha... |
OMIM:613803 |
| Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Sparse scalp hair, Inguinal hernia, Congenital diaphragmatic hernia, Na... |
ORPHA:1272 |
| Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Enlarged ovaries, Increased pineal vo... |
ORPHA:769 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal dental enamel morphology, Abnormal toenail morphology |
ORPHA:1005 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Carious teeth, Wide nasal bridge, Secondary hyperparathyroidism, Ename... |
OMIM:277440 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Omphalocele |
OMIM:614450 |
| Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
| Schwartz-Jampel Syndrome |
|
Micrognathia, Low anterior hairline, High palate, Wrist flexion contracture, Generalized hirsutis... |
ORPHA:800 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Micrognathia, Low anterior hairline, Low posterior hairline, Cafe-au-l... |
ORPHA:73272 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Retinitis, Hamartoma of tongue, Micrognathia, Cleft lip, Supernum... |
OMIM:615948 |
| Localized Scleroderma |
|
Abnormal skin adnexa morphology, Fasciitis, Cutaneous sclerotic plaque, Abnormality of the dentit... |
ORPHA:90289 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Sinusitis, Hypopigmented skin patches, Skin ulcer, Glossoptosis, Cellulitis |
ORPHA:47 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Thin skin |
OMIM:112250 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... |
OMIM:606721 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Ankle flexion contracture, Micrognathia, Long eyelashes, Short nose |
OMIM:617802 |
| Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
| Bathing Suit Ichthyosis |
|
Alopecia, Multiple joint contractures, Sparse hair, Nail dystrophy, Eclabion |
ORPHA:100976 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mandibular prognathia, Thin skin |
ORPHA:449291 |
| Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Synophrys, Downturn... |
ORPHA:3455 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism |
OMIM:612463 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Cryptorchidism, Narrow palate, Short upper lip, Thick vermilion border, Sh... |
ORPHA:364028 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Optic atrophy, Wide nasal bridge, Delayed eruption of permanent teeth, Bro... |
OMIM:218400 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
| Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, High palate... |
OMIM:135500 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Atrophic scars, Nail dystrophy,... |
OMIM:226730 |
| Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
| Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Sparse scalp hair, Alopecia, Dental crowding, Sparse eyelashes, Lipoatrophy, M... |
OMIM:614008 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Skin tags, Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary la... |
OMIM:610706 |
| Emanuel Syndrome |
|
Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High... |
ORPHA:96170 |
| Poikiloderma With Neutropenia |
|
Micrognathia, Carious teeth, Sparse eyebrow, Reticular hyperpigmentation, Low posterior hairline,... |
OMIM:604173 |
| Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Thin skin |
OMIM:166200 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96264 |
| Distal Deletion 12Q |
|
Median cleft lip, Unilateral cryptorchidism, Micrognathia, High, narrow palate, Supernumerary too... |
ORPHA:96149 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Dermal atrophy, ... |
ORPHA:69735 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Tooth agenesis, Nail dystrophy, Woolly hair |
OMIM:605676 |
| Acces Syndrome |
|
Sparse scalp hair, Retrognathia, Aplasia cutis congenita of scalp, Supernumerary nipple |
OMIM:619959 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Aplasia/Hypoplasia of the skin, Abnormal de... |
ORPHA:1782 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Cryptorch... |
ORPHA:950 |
| Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Selective tooth agenesis, Interphalangeal joint contracture of finger,... |
OMIM:305620 |
| Distal Deletion 19P |
|
Alopecia, Vaginal hernia, Hypoplasia of the maxilla, Cleft palate, Umbilical hernia, Short philtr... |
ORPHA:96129 |
| Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... |
OMIM:613849 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Naevus flammeus of the eyelid, Downturned corners of mouth, Hyperconvex fingernails, Advanced eru... |
ORPHA:2215 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Sparse lateral eyebrow |
ORPHA:3406 |
| Kallmann Syndrome |
|
Decreased testicular size, Cryptorchidism, Cleft palate, Tooth agenesis, Anterior hypopituitarism... |
ORPHA:478 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Hip contracture, Micrognathia, Cryptorchidism, Fine... |
ORPHA:85201 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Thi... |
OMIM:309900 |
| Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
| Joubert Syndrome 14 |
|
Tented upper lip vermilion, Highly arched eyebrow, Morning glory anomaly, Optic atrophy, Cleft pa... |
OMIM:614424 |
| Trisomy 9P |
|
Wide intermamillary distance, Sacral dimple, Dental crowding, Hypoplastic toenails, Non-midline c... |
ORPHA:236 |
| Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
| Marshall Syndrome |
|
Retinal detachment, Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermi... |
OMIM:154780 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Broad eyebrow, Long nose, Synophrys, Patent ductus arteriosus, Par... |
OMIM:620113 |
| Anti-Glomerular Basement Membrane Disease |
|
Retinal detachment, Persistence of primary teeth |
ORPHA:375 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly |
ORPHA:858 |
| Cushing Disease |
|
Sparse scalp hair, Adrenal hyperplasia, Dorsocervical fat pad, Hyperpigmentation of the skin, Pit... |
ORPHA:96253 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Dysplastic corpus callosum, Thin lower lip vermilion... |
ORPHA:363444 |
| Kabuki Syndrome 2 |
|
Natal tooth, Areolar fullness, Highly arched eyebrow, Micrognathia, Lower lip pit, Dental maloccl... |
OMIM:300867 |
| Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Erythrodontia, Loss of eyelashes, Corneal scarring, Atypical scarring o... |
OMIM:263700 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Conical tooth, Sparse eyebrow, Bilateral cryptorchidism, Wide... |
OMIM:613451 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Sparse scalp hair, Thick eyebrow, Hypoplasti... |
ORPHA:1465 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Impaired neutrophil chemotaxi... |
OMIM:618986 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l... |
OMIM:619148 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
| Joubert Syndrome 18 |
|
Cleft palate, Lobulated tongue, Camptodactyly, Molar tooth sign on MRI, Retrognathia, Agenesis of... |
OMIM:614815 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin |
ORPHA:735 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Chanarin-Dorfman Syndrome |
|
Alopecia, Everted lower lip vermilion |
OMIM:275630 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Al-Gazali-Bakalinova Syndrome |
|
Inguinal hernia, Wide nasal bridge, Molar tooth sign on MRI, Malar flattening, Triangular mouth, ... |
OMIM:607131 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism, Premature loss of primary teeth, Abnormality of the dentition, Abn... |
ORPHA:93160 |
| Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Patent ductus arteriosus, Umbilical hernia, Aplasia cutis congenita, Toenai... |
OMIM:615297 |
| Kosaki Overgrowth Syndrome |
|
Thin upper lip vermilion, Wide nasal bridge, Thin skin, Xanthelasma |
OMIM:616592 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Widely spaced teeth |
OMIM:135100 |
| Cleidocranial Dysplasia 1 |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... |
OMIM:119600 |
| Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Abnormal hair morphology, Everted lower lip vermilion, Small nail |
OMIM:242100 |
| Emanuel Syndrome |
|
Broad jaw, Preauricular pit, Sacral dimple, Inguinal hernia, Dental crowding, Delayed eruption of... |
OMIM:609029 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Cheilitis, Abnormality of the ton... |
ORPHA:37 |
| Werner Syndrome |
|
Sparse scalp hair, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the skin, Lipodystr... |
ORPHA:902 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Alopecia, Lipodystrophy, Abnormal eyelash morphology, Subcutaneous nod... |
ORPHA:2396 |
| Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Highly arched eyebrow, Sparse eyebrow, Flexion contracture, Long philtrum |
ORPHA:263463 |
| Laron Syndrome |
|
Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia |
ORPHA:633 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Agenes... |
OMIM:200990 |
| Arterial Tortuosity Syndrome |
|
Inguinal hernia, Femoral hernia, Hiatus hernia, Abnormal zygomatic bone morphology, Thin skin, Ma... |
ORPHA:3342 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:269920 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Otopalatodigital Syndrome, Type I |
|
Omphalocele, Selective tooth agenesis, Absent frontal sinuses, Wide nasal bridge, Cleft palate, M... |
OMIM:311300 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Wide nasal bridge, Abnormality of primary t... |
ORPHA:438216 |
| Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Hyperpigmentation of the skin, Abnormal dental enamel morphology, Alop... |
ORPHA:221016 |
| Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Al... |
OMIM:615577 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Sparse axillary hair, Sparse pubic hair, Gonadotropin deficiency... |
ORPHA:52901 |
| Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Epidermoid cyst, Abnormality of the dentition, Supernumerary tooth, Lo... |
ORPHA:733 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin |
ORPHA:230839 |
| Sotos Syndrome |
|
Mandibular prognathia, Sparse eyebrow, High, narrow palate, Patent ductus arteriosus, Partial age... |
OMIM:117550 |
| Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Polycystic ovaries, Premature graying o... |
ORPHA:100 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Sacral dimple, Long uvula, Widened atrophic scar, Alopecia, Inguinal hernia, Micr... |
ORPHA:536532 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Chorioretinal coloboma, Sparse hair, Highly arched eyebrow, ... |
OMIM:280000 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Crypt... |
ORPHA:2063 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
| Curry-Jones Syndrome |
|
Aplasia/Hypoplasia of the skin, Optic disc coloboma, Hypopigmented skin patches, Iris coloboma, A... |
ORPHA:1553 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hypermelanotic macule, Delayed eruption of primary teeth, Scarring, Crypto... |
ORPHA:90322 |
| Mogs-Cdg |
|
Alopecia, Fair hair, Optic atrophy, Hydrocele testis, High palate, Long eyelashes, Retrognathia, ... |
ORPHA:79330 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Cryptorchidi... |
OMIM:610253 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Bilateral cryptorc... |
OMIM:180849 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Sacral dimple, Inguinal hernia, Highly arched eyebrow, Abnormality of t... |
ORPHA:363611 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Micrognathia, Partial agenesis of the corpus callosum, Cleft palate, Short philtrum, Retinal neov... |
OMIM:619074 |
| Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Alopecia, Decreased response to growth hormone stimulation test, Abnorma... |
OMIM:203800 |
| Olmsted Syndrome 2 |
|
Cheilitis, Flexion contracture of digit, Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Dental crowding, Carious teeth, Pilomatrixoma, Supernumerary tooth, Talon cusp, Dent... |
ORPHA:353281 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th... |
ORPHA:568 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Reticulated skin pigmentation, Cryptorchidism, Fine hair, Premature graying of hair, Ex... |
OMIM:613990 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Micrognathia, Synophrys, Atypical scarring of skin, High palate, Thin skin, Umbi... |
ORPHA:536545 |
| Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Hyperpigmentation of the skin, Abnormal dental enamel morphology, Alop... |
ORPHA:221008 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Sacral dimple, Inguinal hernia, Micrognathia, Cario... |
OMIM:223370 |
| Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Abse... |
ORPHA:90156 |
| Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Orofacial cleft, Atypical scarri... |
ORPHA:60030 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Optic atrophy, Hypodontia |
ORPHA:447896 |
| Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormality of retinal pigmentation, Abnorm... |
ORPHA:192 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Nail dystrophy, Thin skin |
OMIM:615895 |
| Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Hypoparathyroidism, Abnormal dental enamel morphology |
ORPHA:2238 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Omphalocele, Hamartoma of tongue, Sparse eyebrow, Cleft lip, Pate... |
OMIM:616300 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short nose, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1458 |
| Microphthalmia, Syndromic 1 |
|
Dental crowding, Cleft upper lip, High, narrow palate, Cryptorchidism, Optic disc coloboma, Orofa... |
OMIM:309800 |
| Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Cleft palate, Micrognathia |
OMIM:614120 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Thin skin, Striae distensae |
OMIM:219080 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Taurodontia, Enamel hypoplasia, Angioid streaks of the fundus |
OMIM:211900 |
| Brachydactyly, Type B1 |
|
Anonychia, Delayed eruption of permanent teeth, Camptodactyly, Joint contracture of the hand, Hyp... |
OMIM:113000 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Nail dystrophy, Nail dysplasia, Glossitis, Hyperpigmentation of the skin |
OMIM:175500 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus, Low anterior h... |
ORPHA:2095 |
| Schimke Immuno-Osseous Dysplasia |
|
Hypermelanotic macule, Abnormal primary molar morphology, Multiple lentigines, Hypodontia, Microd... |
ORPHA:1830 |
| Pycnodysostosis |
|
Ridged nail, Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Del... |
ORPHA:763 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Optic atrophy, Oligodontia, Hypodontia |
OMIM:614381 |
| Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Abnormality of the gingiva, Subcutaneous nodule, Gingivitis, Abnormality of ... |
ORPHA:286 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Chorioretinal dysplasia, Micrognathi... |
ORPHA:534 |
| Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, High palate, Hypopl... |
ORPHA:861 |
| Ring Chromosome 13 Syndrome |
|
Alopecia, Hypoplasia of the gallbladder, Abnormal retinal morphology, Micrognathia, Wide nasal br... |
ORPHA:96176 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short lingual frenulum, Flexion contracture, Wide nasal bridge, Lateral ventricle dilatation, Wid... |
OMIM:619479 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
| Dyskeratosis Congenita, Digenic |
|
Decreased testicular size, Alopecia, Sparse eyelashes, Abnormality of the dentition, Abnormality ... |
OMIM:620040 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Microretrognathia, Thin upper lip vermilion, Skin tags, Thick eyebrow, Optic nerv... |
ORPHA:508488 |
| Pycnodysostosis |
|
Ridged nail, Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinu... |
OMIM:265800 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary |
OMIM:241090 |
| Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Lipodystrophy, Increased adipose tissue, Chorioretinitis, Col... |
ORPHA:199276 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin |
OMIM:309400 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
| Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Flexion contracture |
OMIM:617105 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Abnorma... |
ORPHA:785 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Brittle hair, Congenital diaphragmatic hernia, Oligodontia... |
OMIM:305600 |
| Osteoglosphonic Dysplasia |
|
Inguinal hernia, Micrognathia, Cryptorchidism, Tooth agenesis, Multiple unerupted teeth |
ORPHA:2645 |
| Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Micrognathia, High, narrow palate, Synophrys, Downturned corners... |
OMIM:122470 |
| Carpenter Syndrome 1 |
|
Preauricular pit, Omphalocele, Sacral dimple, Persistence of primary teeth, Hypoplasia of the max... |
OMIM:201000 |
| Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Decreased testicular size, Sparse eyelashes, Carious teeth, Re... |
OMIM:305000 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Optic disc pallor, Gingival fibromatosis, Narrow palate, Pigmentary re... |
OMIM:266270 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Hip contracture, Hypermelanotic macule, Interphalangeal joint contract... |
OMIM:259600 |
| Joubert Syndrome With Ocular Defect |
|
Retinal dystrophy, Highly arched eyebrow, Cleft palate, Orofacial cleft, Retinal coloboma, Molar ... |
ORPHA:220493 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Micrognathia, Synophrys, Eruption failure, High pa... |
ORPHA:476126 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypoplasia of the pons, Alopecia, Retinal atrophy |
ORPHA:412057 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia |
OMIM:618840 |
| Specc1L-Related Hypertelorism Syndrome |
|
Preauricular pit, Omphalocele, Highly arched eyebrow, Cryptorchidism, Widow's peak, Patent ductus... |
ORPHA:1519 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Lipodystrophy, Cleft upper lip, G... |
ORPHA:168569 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Retinal detachment, Inguinal hernia, Dental crowding, Molluscoid pseudotumors, Thin skin |
OMIM:225400 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst, Thin skin, Striae distensae |
OMIM:610475 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
High palate, Persistence of primary teeth |
OMIM:147060 |
| Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Epidermal nevus, Supernumerary nipple, Preauricular skin tag, P... |
OMIM:600268 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Thick eyebrow, Carious teeth, Widow's peak, Lateral ventricle dilatati... |
OMIM:619229 |
| Cherubism |
|
Jaw swelling, Optic neuropathy, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Nar... |
OMIM:118400 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Abnormal lateral ventricle morphology, Dental crowding, Highly arched eyebrow, Micro... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Abnormal lateral ventricle morphology, Dental crowding, Highly arched eyebrow, Micro... |
ORPHA:353277 |
| Celiac Disease, Susceptibility To, 1 |
|
Stomatitis, Alopecia, Enamel hypoplasia, Recurrent aphthous stomatitis |
OMIM:212750 |
| Gabriele-De Vries Syndrome |
|
Abnormality of upper lip vermillion, Decreased response to growth hormone stimulation test, Micro... |
ORPHA:506358 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Micrognathia, Gingival overgrowth, Congenital stationary night blindness, Hirsutism |
ORPHA:313855 |
| Joubert Syndrome 35 |
|
Highly arched eyebrow, Synophrys, Molar tooth sign on MRI, Elongated superior cerebellar peduncle... |
OMIM:618161 |
| Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Highly arched eyebrow, Micrognathia, Protruding tongue, Gingi... |
OMIM:259775 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis |
OMIM:617443 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Sparse hair, Iris coloboma, Bifid uvul... |
OMIM:620186 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent ductus arteriosus, Umbilical... |
OMIM:619769 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Dermal atrophy, Nail... |
ORPHA:3322 |
| Bartsocas-Papas Syndrome 1 |
|
Skin tags, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Omphal... |
OMIM:263650 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Bilateral cryptorchidism, Macrodontia of permanent maxillary central incisor, Retrognathia |
ORPHA:466722 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Onycholysis, Marked delay in eruption of permanent teeth, Yel... |
OMIM:104570 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Erythematous oral mucosa, Furrowed tongue, Coarse hair, Nail dystrophy, Nail dysplasia,... |
OMIM:158310 |
| Osteogenesis Imperfecta, Type Ii |
|
Thin skin |
OMIM:166210 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A... |
ORPHA:158668 |
| Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
| Leprosy |
|
Urticarial plaque, Hypopigmented macule, Absent eyebrow, Alopecia, Skin nodule, Loss of eyelashes... |
ORPHA:548 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Optic atrophy, Olig... |
OMIM:224300 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Retinal dystrophy, Brainstem dysplasia, Highly arched eyebrow, Protruding tong... |
OMIM:213300 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Thick lower lip vermilion, Retinopathy |
OMIM:617120 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Linear hyperpigmentation, Cryptorchidism, Nevus psiloliparus, Agenesis of corpus callos... |
OMIM:613001 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Opt... |
OMIM:259710 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Hypopigmented ... |
ORPHA:3453 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... |
ORPHA:2769 |
| Atelis Syndrome 2 |
|
Sacral dimple, Remnants of the hyaloid vascular system, Micrognathia, Diastema, Patent ductus art... |
OMIM:620185 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Thin upper lip vermilion, Patchy alopecia, Long philtrum, Sparse hair, Rod-cone dystrophy |
OMIM:617763 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| 3M Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p... |
ORPHA:2616 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Epidermal nevus, Cleft upper lip, Micrognathia, Flexion contracture, Stillbirth, Small ... |
OMIM:308050 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Thick eyebrow, Micrognathia, Hypoplasia of the m... |
OMIM:300534 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Adrenal hyperplasia, Dorsocervical fat pad, Hirsutism |
OMIM:615830 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Preauricular pit, Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia,... |
OMIM:170390 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Abnormality of the nail |
ORPHA:79394 |
| Opitz Gbbb Syndrome |
|
Preauricular pit, Natal tooth, Inguinal hernia, Omphalocele, Enlarged ovaries, Congenital diaphra... |
ORPHA:2745 |
| Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... |
ORPHA:79100 |
| Joubert Syndrome With Renal Defect |
|
Highly arched eyebrow, Cleft palate, Orofacial cleft, Molar tooth sign on MRI, Agenesis of corpus... |
ORPHA:220497 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Sheehan Syndrome |
|
Sparse axillary hair, Reduced circulating prolactin concentration, Sparse pubic hair, Adrenocorti... |
ORPHA:91355 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Micrognathia, Eruption fa... |
OMIM:619322 |
| Acrocraniofacial Dysostosis |
|
Preauricular pit, Abnormal fingernail morphology, Micrognathia, Cleft palate, Short philtrum, Adv... |
ORPHA:949 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Absent fingernail, Sparse... |
ORPHA:974 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... |
OMIM:603903 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... |
OMIM:269300 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Hypermelanotic macule, Delayed eruption of primary... |
ORPHA:90321 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... |
ORPHA:35173 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Oral ulcer |
ORPHA:169154 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigable weakness, Hepatomegaly, Fatigable weakness of neck muscles, Cardiomegaly |
ORPHA:42 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Skin tags, Natal tooth, Preauricular pit, Optic atrophy, Gingival overgrowth, Narrow palate, High... |
OMIM:123790 |
| Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Wide intermamillary distance,... |
OMIM:616268 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Dry hair, Retinal atrophy, Reduced subcutaneous adipose t... |
OMIM:216400 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Chorioretinal dysplasia, Congenital diaphragmatic hernia, Micrognathia, Vitritis, Abnormality of ... |
ORPHA:2556 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Wide n... |
ORPHA:2780 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros... |
OMIM:300373 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Partial agen... |
OMIM:614643 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Sézary Syndrome |
|
Alopecia, Irregular hyperpigmentation, Nail dystrophy |
ORPHA:3162 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipodystrophy, Micrognathia, Crypt... |
OMIM:615381 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Wide intermamillary distance, Retinal dystrophy, Supernumerary nipple, Micrognathia, Subretinal d... |
ORPHA:397715 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Dry hair, Delayed eruption of primary... |
OMIM:133540 |
| Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Low anterior hairline, Downturned corners of mouth, ... |
ORPHA:79500 |
| Giant Cell Arteritis |
|
Alopecia, Optic atrophy, Glossitis, Skin ulcer |
ORPHA:397 |
| Warburg-Cinotti Syndrome |
|
Retinal dystrophy, Dental crowding, Ankle flexion contracture, Elbow flexion contracture, Gingiva... |
OMIM:618175 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Multiple joint contractures, Anterior pituitary hypoplasia, Cryptorchidism, Pa... |
ORPHA:464306 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Accessory oral frenulum, Patent ductus arteriosus, Supernumerary tooth, Hypodon... |
OMIM:617088 |
| Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum |
OMIM:184260 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Inguinal hernia, Omphalocele,... |
OMIM:247200 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Papilledema, Dental crowding, Hypoplasia of the... |
OMIM:614188 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Wide intermamillary distance, Dental crowdin... |
OMIM:300990 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Desmosterolosis |
|
Aplasia/Hypoplasia of the skin, Micrognathia, Patent ductus arteriosus, Submucous cleft hard pala... |
ORPHA:35107 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Dent... |
OMIM:101800 |
| Orofaciodigital Syndrome Xvi |
|
Inguinal hernia, Hamartoma of tongue, Molar tooth sign on MRI, Retrognathia, Retinopathy |
OMIM:617563 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Inguinal hernia, Aplasia/Hypoplasia of the skin, Nevus, Camptodactyly of finger, Micrognathia, Cr... |
ORPHA:2990 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Coloboma, Agenesis of corpus callosum, Chorioretinal coloboma |
OMIM:619111 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Palmar pits, Plan... |
ORPHA:77301 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Sacral dimple, Hypoparathyroidism, Abnormal fingern... |
ORPHA:235 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Short nail, Deep philtrum, High palate, Long eyelashes, Macular hypopl... |
ORPHA:1675 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism |
OMIM:612462 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Wide intermamillary distance, Hamart... |
OMIM:269860 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Aplasia cutis congenita, Flexion contracture |
OMIM:612138 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Retinal dystrophy, Cleft soft palate, Optic nerve hypoplasia, Flexion contracture, Opti... |
OMIM:619321 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Psoriasiform dermatitis, Alopecia totalis, Decreased response to growth hormone stimula... |
ORPHA:293978 |
| Hemochromatosis, Type 1 |
|
Alopecia, Testicular atrophy, Hyperpigmentation of the skin |
OMIM:235200 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Retinal detachment, Tented upper lip vermilion, Wide nasal bridge, Delayed... |
ORPHA:521445 |
| Joubert Syndrome 15 |
|
Retinopathy, Coloboma, Retinal dystrophy, Molar tooth sign on MRI |
OMIM:614464 |
| Ulnar-Mammary Syndrome |
|
Inverted nipples, Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Sp... |
OMIM:181450 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Asymmetric, linear skin defects, H... |
OMIM:300952 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism |
OMIM:103580 |
| Eiken Syndrome |
|
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... |
OMIM:600002 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Adnp Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Sparse scalp hair, Inguinal hernia, Wide intermamillar... |
ORPHA:404448 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Thin skin, Striae distensae |
OMIM:610489 |
| Neuroocular Syndrome |
|
Brittle hair, Synophrys, Lens coloboma, Downturned corners of mouth, Widely spaced teeth, Torus p... |
OMIM:619539 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Alopecia, Abnormal oral mucosa morphology, Skin erosion, Paronychia, Rena... |
ORPHA:79404 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Hypopituitarism, Remnants of the hyaloid vascular system, Opti... |
OMIM:603671 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Abnormality of the dentition, Abnormality of the gingiva, Subcutaneous nodule, G... |
ORPHA:285 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Alope... |
OMIM:614594 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Omphalocele, Micrognathia, Frontal hirsutism... |
OMIM:309350 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Scarring alopecia of scalp, Ski... |
ORPHA:158684 |
| Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Hiatus hernia, Cryptorchidism, Hypopigmented skin patches, Wide mouth, Thic... |
ORPHA:2896 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Optic atrophy, Narro... |
ORPHA:87 |
| Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Cryptorchidism, Dental malocclusion,... |
ORPHA:97360 |
| Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Coloboma, Retinal dysplasia |
OMIM:615665 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Cryptorchidism, Gingival overgrowth, W... |
OMIM:268310 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Dorsocervical fat pad, Hyperpi... |
ORPHA:99889 |
| Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Fragile nails |
OMIM:242150 |
| Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Coloboma, Retinal dystrophy |
OMIM:614465 |
| Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morphology |
ORPHA:280195 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Inverted nipples, Abnormal dental morphology, Micrognathia, High, narr... |
ORPHA:369950 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Leigh Syndrome |
|
Alopecia, Multiple joint contractures, Abnormal brainstem MRI signal intensity, Focal T2 hyperint... |
ORPHA:506 |
| Restrictive Dermopathy |
|
Natal tooth, Multiple joint contractures, Short nail, Camptodactyly of finger, Micrognathia, Spar... |
ORPHA:1662 |
| Systemic Sclerosis |
|
Alopecia, Nail bed telangiectasia, Cutaneous sclerotic plaque, Digital pitting scar, Flexion cont... |
ORPHA:90291 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
ORPHA:79242 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Cryp... |
OMIM:225500 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis |
OMIM:300918 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Conical tooth, Partial agenesis of the corpus callosum... |
OMIM:135900 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Micrognathia, Tooth malposition |
ORPHA:2484 |
| Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the... |
ORPHA:3130 |
| Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Oral ulcer |
ORPHA:93552 |
| Adrenoleukodystrophy |
|
Alopecia, Hyperpigmentation of the skin |
OMIM:300100 |
| Slc35A2-Cdg |
|
Inverted nipples, Limb joint contracture, Camptodactyly of finger, Abnormal midbrain morphology, ... |
ORPHA:356961 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Carious teeth, Narrow mouth, Skin erosion, Flexion contracture, Atypical scarring of skin, Nail d... |
ORPHA:89842 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
| Orofaciodigital Syndrome Type 6 |
|
Hamartoma of tongue, Micrognathia, Highly arched eyebrow, Bilateral cryptorchidism, Cleft palate,... |
ORPHA:2754 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Absent eyebrow, Alopecia, Thin fingernail, Inguinal hernia, Abnormal dental enamel m... |
ORPHA:2273 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Thin upper lip vermilion, Wide intermamillary distance, Optic disc hypoplasia, Exaggerated cupid'... |
OMIM:619306 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Secondary hyperparathyroidism |
OMIM:264700 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Aplasia/Hypoplasia of the skin, Micrognathia, Blue nevus, Patent ductus arter... |
ORPHA:1556 |
| Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Polycystic ovaries |
ORPHA:1643 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Striae distensae, Dorsocervical fat pad, Pituitary adenoma, Primary hyperparathyroidism... |
ORPHA:189427 |
| Superficial Epidermolytic Ichthyosis |
|
Thin skin |
ORPHA:455 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Sacral dimple, Numerous nevi, Abnormal dental morphology, Fair hair... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hypopigmentation of the skin, Sacral dimple, Numerous nevi, Abnormal dental morphology, Fair hair... |
ORPHA:363958 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| Omenn Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
| Xfe Progeroid Syndrome |
|
Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Dermal atrophy, Premature loss of t... |
OMIM:610965 |
| Sympathetic Ophthalmia |
|
Papilledema, Alopecia, Retinal detachment, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh... |
ORPHA:79098 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Anterior pituitary hypoplasia |
ORPHA:453533 |
| Hutchinson-Gilford Progeria Syndrome |
|
Short lingual frenulum, Dental crowding, Micrognathia, High palate, Dystrophic fingernails, Papul... |
ORPHA:740 |
| Meckel Syndrome, Type 10 |
|
Sacral dimple, Cleft palate, Camptodactyly, Molar tooth sign on MRI, Bifid uvula |
OMIM:614175 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Eclabion, Alopecia |
ORPHA:98907 |
| Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Inguinal hernia, Carious teeth, Flexion contracture, Macroglossia, Umb... |
OMIM:253200 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Abnormality of the dentition, Thick lower lip vermilion, Umbilical ... |
ORPHA:261652 |
| Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Abnormality of retinal pigmentation, Skin ulcer |
ORPHA:1117 |
| Stiff Skin Syndrome |
|
Subcutaneous nodule, Retinal detachment, Aplasia/Hypoplasia of the skin, Lipoatrophy |
ORPHA:2833 |
| Adams-Oliver Syndrome 1 |
|
Alopecia, Aplasia cutis congenita on trunk or limbs, Supernumerary nipple, Cleft upper lip, Cleft... |
OMIM:100300 |
| Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Inguinal hernia, Short nail, Carious teeth, Cryptor... |
OMIM:278250 |
| Joubert Syndrome With Oculorenal Defect |
|
Retinal dystrophy, Highly arched eyebrow, Chorioretinal coloboma, Molar tooth sign on MRI, Iris c... |
ORPHA:2318 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Linear Nevus Sebaceus Syndrome |
|
Alopecia, Melanocytic nevus, Adenoma sebaceum, Irregular hyperpigmentation, Iris coloboma |
ORPHA:2612 |
| Branchiooculofacial Syndrome |
|
Micrognathia, Postauricular pit, Premature graying of hair, Sparse hair, Iris coloboma, Preauricu... |
OMIM:113620 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Decreased response to growth hormone stimulation test, Cleft upp... |
OMIM:146510 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Aplasia cutis congenita, Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters |
ORPHA:79403 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Thin nail, Delayed eruption of primary teeth, Widely spaced teeth, Sparse hair |
OMIM:617799 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Absent gallbladder, Wide intermamillary distance, Hamartoma of tongue, Micrognathia,... |
OMIM:617925 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth |
ORPHA:314647 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Failure of eruption o... |
ORPHA:2250 |
| Joubert Syndrome 6 |
|
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Bile duct proliferation, Cho... |
OMIM:610688 |
| Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Wide intermamillary distance, Median cleft lip, Bilateral cleft lip, Micrognathia, C... |
OMIM:612651 |
| Joubert Syndrome 2 |
|
Retinal dystrophy, Brainstem dysplasia, Optic disc coloboma, Hypoplasia of the brainstem, High pa... |
OMIM:608091 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Decreased response to growth ho... |
ORPHA:1855 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Inguinal hernia, Aplasia/Hypoplasia of the skin, Femoral hernia, Abnormal ... |
ORPHA:2658 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Submuc... |
OMIM:235730 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Fine hair, Sparse hair, Decreased testicular size, Anodontia |
OMIM:241080 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Bilateral breast hypoplasia |
ORPHA:319675 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Hypop... |
OMIM:166250 |
| Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Retinal dystrophy, Brainstem dysplasia |
OMIM:611560 |
| Cockayne Syndrome |
|
Dry hair, Congenital contracture, Retinal arteriolar constriction, Retinal degeneration, Retinal ... |
ORPHA:191 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Alopecia, Sparse eyelashes |
OMIM:610768 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Micrognathia, Long nose, Cryptorchidism, Submucous cleft hard palate, Loss of eyelashes... |
ORPHA:2636 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
| Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Premature loss of primary teet... |
ORPHA:2908 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Inguinal hernia, Micrognathia, Supernumerary tooth, Bile duct proliferation, Ankyloglossia |
OMIM:619525 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
| Bloom Syndrome |
|
Hypopigmentation of the skin, Sparse eyelashes, Micrognathia, Adipose tissue loss, Paronychia, Re... |
ORPHA:125 |
| Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Sparse eyebrow, Patent ductus arteriosus, Lateral ventricle dilatation, Thin v... |
OMIM:619869 |
| Kikuchi-Fujimoto Disease |
|
Macule, Erythematous macule, Alopecia, Skin nodule, Oral ulcer, Enlargement of parotid gland, Ski... |
ORPHA:50918 |
| Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Oral ulcer, E... |
ORPHA:79480 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Patchy alopecia, Alopecia universalis, Cellulitis |
OMIM:606367 |
| Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Microretrognathia, Thin upper lip vermilion, Sacral dimple, High, narrow palate, Synophrys, Long ... |
OMIM:300966 |
| Biotinidase Deficiency |
|
Alopecia, Optic atrophy |
OMIM:253260 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Optic nerve compression, Premature loss of primary teeth, Abnormality ... |
ORPHA:667 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Retinopathy |
OMIM:614970 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia |
OMIM:304790 |
| Joubert Syndrome 33 |
|
Cone/cone-rod dystrophy, Molar tooth sign on MRI |
OMIM:617767 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi... |
OMIM:619503 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormality of taste sensation, Sinusitis, Abnormal medulla oblongata morpho... |
ORPHA:68 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Retino... |
OMIM:619269 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Charge Syndrome |
|
Delayed eruption of teeth, Highly arched eyebrow, Cleft upper lip, Abnormal soft palate morpholog... |
ORPHA:138 |
| Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... |
OMIM:609583 |
| Meckel Syndrome, Type 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Camptodactyly of finger, Cleft upper lip, Mic... |
OMIM:249000 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Limb joint contracture, Flexion contracture, Alveolar ridge overgrowth... |
OMIM:301072 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia, Secondary hyperparathyroidism |
ORPHA:289157 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Cholelithiasis, Alopecia totalis |
OMIM:618775 |
| Coach Syndrome 1 |
|
Wide mouth, Optic disc pallor, Molar tooth sign on MRI, Coloboma |
OMIM:216360 |
| Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Phakomatosis Pigmentokeratotica |
|
Cryptorchidism, Melanocytic nevus, Linear nevus sebaceous, Coloboma, Patchy alopecia, Pheochromoc... |
ORPHA:2874 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Aplasia/Hypoplasia of the nipples, Hyper... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Aplasia/Hypoplasia of the nipples, Hyper... |
ORPHA:99228 |
| Monosomy X |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Aplasia/Hypoplasia of the nipples, Hyper... |
ORPHA:99226 |
| Turner Syndrome |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Aplasia/Hypoplasia of the nipples, Hyper... |
ORPHA:881 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, H... |
OMIM:601803 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Malar flattening |
OMIM:302960 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Kindler Syndrome |
|
Ridged nail, Carious teeth, Spotty hypopigmentation, Gingivitis, Periodontitis, Dermal atrophy, S... |
OMIM:173650 |
| Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Carious teeth, Cryptorchidism, High pa... |
ORPHA:2834 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Hirsutism, Testicular adrenal rest tumor, Polycystic ovaries, Gynecomastia, Hyperpigmen... |
ORPHA:90795 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Inguinal hernia, Failure of eruption of permanent teeth, Cle... |
OMIM:272460 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small nail |
ORPHA:384 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Optic atrophy, Irregular hyperpigmentation, Abnormality... |
ORPHA:428 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Persistence of primary teeth, Carious teeth, Retinal calcification, Congenital hypop... |
ORPHA:93325 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Pseudohypoparat... |
ORPHA:94089 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
| Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Curly eyelashes, Micrognathia, Highly arched eyebrow, Congenital diaph... |
ORPHA:199 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
| Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Retinal dystrophy |
OMIM:617622 |
| Stickler Syndrome |
|
Retinal detachment, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, C... |
ORPHA:828 |
| Insulin-Resistance Syndrome Type B |
|
Alopecia, Enlarged ovaries, Enlarged polycystic ovaries, Polycystic ovaries, Abnormal salivary gl... |
ORPHA:2298 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Abnormal retinal morphology, Persistence of primary teeth, Micrognathia, Abnorma... |
ORPHA:2785 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
| Biotinidase Deficiency |
|
Alopecia, Optic atrophy, Optic neuropathy |
ORPHA:79241 |
| Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Retinal dystrophy |
OMIM:612285 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Cryptorchidism, Dental malocclusion, Cleft pala... |
OMIM:101200 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Streak ovary, Micrognathia, Abnormality of the gingiv... |
ORPHA:798 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Panniculitis, Subcutaneous nodule, Gingival overgrowth |
ORPHA:508542 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Orofaciodigital Syndrome Vi |
|
Accessory oral frenulum, Cleft upper lip, Micrognathia, Hamartoma of tongue, Cleft palate, Incomp... |
OMIM:277170 |
| Systemic Lupus Erythematosus |
|
Alopecia, Cheilitis, Oral ulcer, Abnormal pigmentation of the oral mucosa, Retinopathy |
ORPHA:536 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Remnants of the hyaloid vascular system, Cyclopia, Submucous cleft har... |
OMIM:157170 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Osteoma cutis, Decreased response to growth hormone stimulation test, ... |
ORPHA:79444 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, High, narrow palate, Cleft palate, A... |
ORPHA:2714 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Mixed Connective Tissue Disease |
|
Alopecia |
ORPHA:809 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Decreased testicul... |
ORPHA:3464 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Hypoplastic toenails, Umbilical hernia, Cutis marmorata telangiectatica congenit... |
OMIM:616028 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
| Lead Poisoning |
|
Delayed eruption of teeth |
ORPHA:330015 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI |
OMIM:616781 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con... |
ORPHA:79408 |
| Omenn Syndrome |
|
Alopecia, Hypoplasia of the thymus |
OMIM:603554 |
| Immunodeficiency 7 |
|
Patchy alopecia, Vitiligo |
OMIM:615387 |
| Behcet Syndrome |
|
Chorioretinitis, Patchy alopecia, Oral ulcer |
OMIM:109650 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Dermal atrophy, Hyperpigmentation of... |
ORPHA:90342 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI, Bile duct proliferation, Cleft palate |
OMIM:611134 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Anemia |
OMIM:608013 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Protruding tongue, Micrognathia, Long philtrum, Malar flattening, Short nose |
ORPHA:50945 |
| Juvenile Dermatomyositis |
|
Alopecia, Skin ulcer |
ORPHA:93672 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Psoriasiform dermatitis, Nail dystrophy |
ORPHA:37042 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, Inguinal hern... |
OMIM:308205 |
| Codas Syndrome |
|
Delayed eruption of teeth, Cryptorchidism, Enamel hypoplasia, Omphalocele |
OMIM:600373 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia u... |
ORPHA:363618 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Cleft palate |
OMIM:257910 |
| Relapsing Polychondritis |
|
Macule, Alopecia, Recurrent aphthous stomatitis |
ORPHA:728 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Joubert Syndrome 32 |
|
Molar tooth sign on MRI |
OMIM:617757 |
| Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Osteoma cutis, Decreased response to growth hormone stimulation test, ... |
ORPHA:79443 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Hypo... |
OMIM:616546 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Hip contracture, Micrognathia, Cryptorchidism, Wide... |
OMIM:606170 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, Wide intermamillary distance, Camptodactyly of finger, Highly arched e... |
OMIM:143095 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
| Viss Syndrome |
|
Microretrognathia, Sparse scalp hair, Alopecia, Retinal detachment, Inguinal hernia, Cleft soft p... |
OMIM:619472 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Carious teeth, Abnormal subcutaneous fat tissue distribution, Craniofa... |
ORPHA:1328 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, High anterior hairline, Erupt... |
OMIM:182250 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
| Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Sinusitis, Decreased response to growth hormone stimulation test, Cari... |
ORPHA:811 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia |
OMIM:269200 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... |
ORPHA:247691 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:230000 |
| Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Inguinal hernia, Abnormal dental enamel m... |
ORPHA:666 |
| Arima Syndrome |
|
Retinal dystrophy, Brainstem dysplasia, Optic atrophy, Wide mouth, Hypoplasia of the brainstem, C... |
OMIM:243910 |
| Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Downturned co... |
OMIM:619476 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Anterior pituitary dysgenesis, Alopecia, Autoimmune hypoparathyroidism, Vitiligo |
ORPHA:227982 |
| Steinert Myotonic Dystrophy |
|
Alopecia, Tented upper lip vermilion, Decreased response to growth hormone stimulation test, Abno... |
ORPHA:273 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Carious teeth, Oral ulcer, Gingivitis, Polycystic ovaries, Xanthelasma, Delayed eruption of perma... |
ORPHA:79259 |
| Dermatomyositis |
|
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Skin ulcer, Breast carcinoma, Cellulitis,... |
ORPHA:221 |
| Sarcoidosis |
|
Alopecia, Hyperpigmentation of the skin, Scarring, Skin nodule, Subcutaneous nodule, Enlarged lac... |
ORPHA:797 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Anterior pituitary dysgenesis, Vitiligo |
ORPHA:227990 |
| Joubert Syndrome 5 |
|
Cleft palate, Retinal coloboma, Molar tooth sign on MRI, Rod-cone dystrophy, Thickened superior c... |
OMIM:610188 |
| Japanese Encephalitis |
|
Abnormal pons morphology, Abnormal substantia nigra morphology, Elbow flexion contracture, Abnorm... |
ORPHA:79139 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Subacute Cutaneous Lupus Erythematosus |
|
Dermal atrophy, Annular cutaneous lesion, Cheilitis |
ORPHA:163525 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia, Asymmetric, linear skin defects, Cleft palate, Pigmentary retino... |
OMIM:309801 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Fatigable weakness of swallowing muscles, Abnormal aort... |
ORPHA:581 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Retinal dysplasia, Bifid uvula, Micrognathia |
OMIM:601374 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Tooth abscess, Enthesitis |
ORPHA:289176 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Widely spaced tee... |
ORPHA:2152 |
| Pallister-Hall Syndrome |
|
Gonadotropin deficiency, Bifid uvula, Microretrognathia, Accessory oral frenulum, Cleft lip, Pate... |
ORPHA:672 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Fasciitis, Flexion contracture, Intermittent generalized erythematous papular rash, Ski... |
ORPHA:99921 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, A... |
ORPHA:261552 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, A... |
ORPHA:261537 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Brain stem compr... |
ORPHA:637 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Abnormal retinal morphology |
OMIM:614615 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Fatigable weakness of respiratory muscles, Fatigable weakness of swal... |
ORPHA:365 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Nodular Non-Suppurative Panniculitis |
|
Subcutaneous nodule, Panniculitis, Aplasia/Hypoplasia of the skin |
ORPHA:33577 |
| Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Anemia |
ORPHA:14 |
| Floating-Harbor Syndrome |
|
Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Long nose, Cryptorchidism... |
ORPHA:2044 |
| Toriello-Lacassie-Droste Syndrome |
|
Generalized hyperpigmentation, Aplasia/Hypoplasia of the skin, Agenesis of corpus callosum, Short... |
ORPHA:3339 |
| Sotos Syndrome |
|
Hip contracture, Inguinal hernia, Ankle flexion contracture, Abnormality of the dentition, Sparse... |
ORPHA:821 |
| Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Hypoplasia of the nasal bone, Hypoplasia of the ... |
ORPHA:93357 |
| African Trypanosomiasis |
|
Erythematous macule, Alopecia, Papilledema, Abnormal prolactin level, Optic neuritis, Gynecomastia |
ORPHA:3385 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold |
OMIM:221900 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Pigmentary retinopathy, Freckling, Optic atrophy, Dermal atrophy |
OMIM:610651 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Adrenocortic... |
ORPHA:293987 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... |
ORPHA:51 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus |
OMIM:278700 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Retinopathy, Numerous pigmented freckles, Optic atrophy, Dermal atrophy |
ORPHA:220295 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Baller-Gerold Syndrome |
|
Optic nerve hypoplasia, Micrognathia, Optic atrophy, Cleft palate, Thin vermilion border, High pa... |
OMIM:218600 |
| Wilson Disease |
|
Hypoparathyroidism, Chondrocalcinosis, Face of the giant panda sign |
OMIM:277900 |
| Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Retinal dystrophy, Joint contracture of the 5th finger |
OMIM:619562 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Polycythemia, Visceromegal... |
ORPHA:116 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Thrombocytopenia |
OMIM:256040 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
