| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Pili Gemini |
|
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... |
ORPHA:79492 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Dissecting Cellulitis Of The Scalp |
|
Abnormal hair morphology, Recurrent skin infections, Edema, Pruritus |
ORPHA:345 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Sparse hair, Pili torti |
OMIM:607903 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Nail dystrophy, Trichodysplasia... |
ORPHA:2890 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Sparse bod... |
OMIM:602400 |
| Peeling Skin Syndrome 1 |
|
Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Erythroderma |
OMIM:270300 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Pili torti, Fine hair |
ORPHA:1573 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
| Copper Deficiency, Familial Benign |
|
Curly hair, Early balding, Seborrheic dermatitis |
OMIM:121270 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Pruritus |
ORPHA:505 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair |
OMIM:616943 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:1883 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Sparse scalp hair, Brittle hair, Recurrent skin infections, Brittle sc... |
OMIM:256500 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ... |
OMIM:234050 |
| Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... |
ORPHA:2963 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Alopecia, Nail dystrophy |
OMIM:616487 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair, Oligohydramnios |
OMIM:616351 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... |
OMIM:300953 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... |
ORPHA:2228 |
| Peeling Skin Syndrome 3 |
|
Abnormal hair morphology, Pruritus |
OMIM:616265 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
| Noonan Syndrome 6 |
|
Curly hair, Edema, Long eyebrows, Polyhydramnios, Low posterior hairline, Sparse hair |
OMIM:613224 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
| Epidermolysis Bullosa Acquisita |
|
Abnormal hair morphology, Nail dystrophy, Pruritus |
ORPHA:46487 |
| Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
| Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
| Bazex-Dupre-Christol Syndrome |
|
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Pil... |
OMIM:301845 |
| Noonan Syndrome 8 |
|
Curly hair, Pleural effusion, Eczema, Polyhydramnios |
OMIM:615355 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Polyhydramnios, Sparse hair, Alopecia of scalp |
OMIM:615280 |
| Cardiofaciocutaneous Syndrome 3 |
|
Curly hair |
OMIM:615279 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
| Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
| Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Erythroderma, ... |
OMIM:601675 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Noonan Syndrome 5 |
|
Curly hair, Polyhydramnios, Sparse eyebrow, Fine hair, Small nail |
OMIM:611553 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair, Polyhydramnios |
OMIM:618810 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair |
OMIM:616559 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... |
ORPHA:163654 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
| Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
| Leopard Syndrome 3 |
|
Curly hair, Low posterior hairline |
OMIM:613707 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Nail dystrophy |
OMIM:131850 |
| Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair, Trichorrhexis nodosa |
OMIM:616395 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the... |
ORPHA:3353 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
| Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Coarse hair, Brittle hair, Abnormality of hair texture |
OMIM:219200 |
| Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Pruritus, Leukonychia, Nail dystrophy, Woolly hair, Fragile nails |
OMIM:615821 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis, Pruritus |
OMIM:619208 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Folliculitis, Nail dystrop... |
OMIM:167210 |
| Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Cerebral edema, Trichorrhexis nodosa |
OMIM:207900 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair |
OMIM:236200 |
| Smith-Kingsmore Syndrome |
|
Curly hair |
OMIM:616638 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela... |
OMIM:305100 |
| Noonan Syndrome 7 |
|
Curly hair, Low posterior hairline |
OMIM:613706 |
| Noonan Syndrome 4 |
|
Sparse eyebrow, Curly hair, High anterior hairline, Polyhydramnios |
OMIM:610733 |
| Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
| Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
| Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair |
ORPHA:457485 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Polyhydramnios, Highly arched eyebrow, Low posterior hairline, Thick eyebrow |
OMIM:617360 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
| Noonan Syndrome 14 |
|
Curly hair, Polyhydramnios, Sparse eyebrow, Low posterior hairline, Sparse hair |
OMIM:619745 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
| Sulfite Oxidase Deficiency, Isolated |
|
Eczema, Fine hair |
OMIM:272300 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Lymphedema, Abnormal eyelash morphology, Low posterior hairline,... |
ORPHA:1340 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Polyhydramnios, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:222470 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
| Chops Syndrome |
|
Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow |
OMIM:616368 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Sparse hair, Sparse bod... |
OMIM:618535 |
| Acrogeria |
|
Fine hair |
ORPHA:2500 |
| Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
| Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair |
ORPHA:1520 |
| Weaver Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair |
ORPHA:3447 |
| Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Congenital exfoliative erythroderma, Brittle hair, Split nail, Ec... |
ORPHA:33364 |
| Darier Disease |
|
Abnormal hair morphology, Abnormality of the nail, Subungual hyperkeratotic fragments, Pruritus |
ORPHA:218 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Fine hair |
OMIM:618891 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Sparse ha... |
ORPHA:2710 |
| Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Polyhydramnios, Pruritus, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples... |
OMIM:618268 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
| Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Eczema, Polyhydramnios, Loose anagen hair, Long eyelashes, Sparse ... |
OMIM:607721 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Atopic dermatiti... |
OMIM:115150 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
OMIM:607812 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair |
ORPHA:1028 |
| Noonan Syndrome 10 |
|
Sparse eyebrow, Curly hair, Pleural effusion, Increased nuchal translucency |
OMIM:616564 |
| Noonan Syndrome 2 |
|
Curly hair, Polyhydramnios, Sparse eyebrow, Increased nuchal translucency, Low posterior hairline |
OMIM:605275 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo... |
OMIM:304110 |
| Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Polyhydramnios, Low posterior hairline, Coa... |
OMIM:617506 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology |
ORPHA:3082 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Edema, Sparse eyebrow, Nail dystrophy, Woolly hair |
OMIM:605676 |
| Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Trichorrhexis nodosa |
ORPHA:84064 |
| Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
| 2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
| Distal Duplication 6P |
|
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity |
ORPHA:1745 |
| Congenital Ichthyosiform Erythroderma |
|
Pruritus, Alopecia, Abnormality of the nail, Erythroderma |
ORPHA:79394 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
ORPHA:1401 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Oligohydramnios, Fine hair |
ORPHA:228390 |
| Hall-Riggs Syndrome |
|
Coarse hair, Slow-growing hair, Thick hair |
ORPHA:2107 |
| Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
| Tonne-Kalscheuer Syndrome |
|
Concave nail, Small nail, Fine hair |
OMIM:300978 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Hypoplastic nipples, Abnormalit... |
ORPHA:978 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow |
OMIM:619244 |
| Fetal Hydantoin Syndrome |
|
Coarse hair, Hypoplastic fingernail, Low posterior hairline |
ORPHA:1912 |
| Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Brittle hair, Palpebral edema, Sparse hair |
OMIM:252500 |
| Orofaciodigital Syndrome Type 1 |
|
Sparse hair, Alopecia, Coarse hair, Brittle hair |
ORPHA:2750 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Fine hair, Nail ... |
OMIM:257980 |
| Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypertrichosis |
OMIM:602535 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Fine hair |
OMIM:619428 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Fine hair |
OMIM:616817 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
| Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Polyhydramnios, Concave nail, Abnormal hair morph... |
ORPHA:3071 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Fine hair |
ORPHA:1806 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Chronic mucocutaneous candidiasis, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse ... |
OMIM:158310 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Nail pits, Fine hair, Coars... |
OMIM:308300 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... |
ORPHA:444077 |
| Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Polyhydramnios, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow |
ORPHA:1394 |
| 19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ... |
ORPHA:217346 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hydrops fetalis, Abnormality of hair texture |
ORPHA:88618 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
| Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
| Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
| Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture |
ORPHA:2752 |
| Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail |
OMIM:268130 |
| Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
| Bullous Lichen Planus |
|
Pruritus, Breast aplasia |
ORPHA:33408 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hydrops fetalis, Fine hair, Nail dysplasia, Sparse hair, Ascites, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Sparse hair, Synophrys, Low anterior hairline, Fine hair |
ORPHA:391408 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair |
OMIM:124000 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, High anterior hairline, Th... |
OMIM:619950 |
| Renpenning Syndrome 1 |
|
Sparse hair, Brittle hair, Sparse lateral eyebrow |
OMIM:309500 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Polyhydramnios, Concave nail, Sparse hair, Fragile nails |
OMIM:218040 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Long eyelashes, Fine hair |
OMIM:620250 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
| Multiple Sulfatase Deficiency |
|
Coarse hair, Thick eyebrow |
ORPHA:585 |
| Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Abnormal hair pattern |
ORPHA:1786 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Polyhydramnios, Supernumerary nipple, Aplastic/hypoplastic toenail, Fine hair, Aplasia/Hypoplasia... |
ORPHA:1812 |
| Ogden Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Premature graying of hair, Alopecia, Nail dysplasia, Fine hair |
OMIM:613990 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip... |
OMIM:305600 |
| Macrocephaly/Autism Syndrome |
|
Coarse hair |
OMIM:605309 |
| Zttk Syndrome |
|
Sparse eyebrow, Curly hair, Broad eyebrow |
OMIM:617140 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Fine hair |
OMIM:614800 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair, Oligohydramnios |
OMIM:613451 |
| Neuroocular Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e... |
OMIM:619539 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Low anterior hairline |
OMIM:618569 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Fetal ascites, Synop... |
OMIM:619503 |
| Cranioectodermal Dysplasia 3 |
|
Sparse hair, Broad nail, Short nail, Fine hair |
OMIM:614099 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hirsutism |
OMIM:617303 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Fine hair |
OMIM:614438 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture |
ORPHA:79351 |
| Diamond-Blackfan Anemia 21 |
|
Synophrys, Coarse hair, Horizontal eyebrow, Widow's peak |
OMIM:620072 |
| Koolen-De Vries Syndrome |
|
Fair hair, Eczema, Abnormality of hair texture |
OMIM:610443 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Coarse hair, Nail dysplasia |
OMIM:612394 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... |
ORPHA:2108 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:85201 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:612199 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Fine hair |
OMIM:616202 |
| Trisomy 20P |
|
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... |
ORPHA:261318 |
| Schimke Immunoosseous Dysplasia |
|
Coarse hair, Fine hair |
OMIM:242900 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Coarse hair, Thick hair |
ORPHA:357074 |
| 2P15P16.1 Microdeletion Syndrome |
|
Polyhydramnios, Supernumerary nipple, Sparse eyebrow, Fine hair, Long eyelashes |
ORPHA:261349 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Polyhydramnios, Highly arched eyebrow, Lymphedema, Fine hair, Low posterior hairline, Chylothorax... |
OMIM:613563 |
| Mucopolysaccharidosis, Type Vii |
|
Coarse hair, Thick eyebrow, Hydrops fetalis, Hirsutism |
OMIM:253220 |
| Mucopolysaccharidosis, Type Iiid |
|
Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow |
OMIM:252940 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Hypoplastic nipples, Hypertrichosis |
ORPHA:480880 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sparse eyebrow, Curly hair, Broad lateral eyebrow |
ORPHA:500150 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:2637 |
| Eec Syndrome |
|
Slow-growing hair, Sparse eyebrow, Xerostomia, Nail pits, Fine hair, Coarse hair, Nail dystrophy,... |
ORPHA:1896 |
| Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Low anterior hairline, Low posterior hairlin... |
OMIM:601358 |
| Lateral Meningocele Syndrome |
|
Coarse hair |
OMIM:130720 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia |
ORPHA:920 |
| Adrenomyeloneuropathy |
|
Frontal balding, Fine hair |
ORPHA:139399 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Fine hair |
ORPHA:251028 |
| Weaver Syndrome |
|
Sparse hair, Thin nail, Deep-set nails, Fine hair |
OMIM:277590 |
| Cerebellar-Facial-Dental Syndrome |
|
Sparse hair, Sparse eyebrow, Fine hair |
ORPHA:444072 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Abnormal fingernail morphology, Eczema, Hypoplastic toenails, Low anterior hai... |
ORPHA:235 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
| Noonan Syndrome |
|
Abnormal hair quantity, Lymphedema, Coarse hair, Low posterior hairline |
ORPHA:648 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy |
OMIM:614748 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:234100 |
| Mucolipidosis Type Ii |
|
Dry hair, White hair, Oligohydramnios, Fine hair |
ORPHA:576 |
| Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast apla... |
OMIM:181270 |
| Opitz-Kaveggia Syndrome |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:305450 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Synophrys, Hypoplastic sweat glands, Thick eyebrow, Abnormality of hair texture |
ORPHA:73223 |
| Lysinuric Protein Intolerance |
|
Sparse hair, Fine hair |
OMIM:222700 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Pruritus,... |
ORPHA:83617 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture |
ORPHA:667 |
| Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
| Chime Syndrome |
|
Sparse hair, Fine hair |
ORPHA:3474 |
| Mucopolysaccharidosis Type 3 |
|
Thick hair, Synophrys, Coarse hair, Generalized hirsutism, Hirsutism |
ORPHA:581 |
| Occipital Horn Syndrome |
|
Coarse hair, Pili torti |
OMIM:304150 |
| Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Thin nail, Short nail, Fine hair, Sparse hair |
OMIM:218330 |
| Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
| Distal Deletion 12Q |
|
Late onset atopic dermatitis, Small nail, Fine hair |
ORPHA:96149 |
| Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Synophrys, Low anterior hairline, Coarse hair, Generalized hirsut... |
ORPHA:955 |
| Melnick-Needles Syndrome |
|
Coarse hair, Frontal hirsutism |
OMIM:309350 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Fine hair, Hypoplastic nipples, Sparse hair, Sparse lateral eyebrow |
OMIM:280000 |
| Myhre Syndrome |
|
Sparse hair, Pericardial effusion, Thick eyebrow, Fine hair |
OMIM:139210 |
| Cockayne Syndrome B |
|
Sparse hair, Dry hair, Abnormal hair morphology |
OMIM:133540 |
| Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Absent nipple, Synophrys, Low anterior hairline, Oligohydramnios, Low posterio... |
OMIM:612289 |
| Cockayne Syndrome Type 3 |
|
Premature graying of hair, Dry hair |
ORPHA:90324 |
| Ogden Syndrome |
|
Pulmonary edema, Eczema, Lymphedema, Sparse eyebrow, Fine hair, Long eyelashes, Oligohydramnios |
OMIM:300855 |
| Cockayne Syndrome A |
|
Sparse hair, Dry hair |
OMIM:216400 |
| Noonan Syndrome 1 |
|
Lymphedema, Woolly hair, Chylothorax, Low posterior hairline |
OMIM:163950 |
| Occipital Horn Syndrome |
|
Coarse hair, Thick hair |
ORPHA:198 |
| Coffin-Lowry Syndrome |
|
Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow |
OMIM:303600 |
| Cockayne Syndrome |
|
Dry hair, Malar rash, Fine hair |
ORPHA:191 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Joint swelling, Dehydration, Fine hair |
ORPHA:534 |
| Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Lumbosacral hirsutism, Long eyelashes,... |
OMIM:135900 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Oligohydramnios |
OMIM:210710 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Eczema, Polyhydramnios, Hyperconvex nail, Fine hair, High anterior... |
OMIM:613406 |
| Liver Disease, Severe Congenital |
|
Dry hair, Eczema, Nail dystrophy, Ascites, Pulmonary edema |
OMIM:619991 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair tex... |
ORPHA:286 |
| Alström Syndrome |
|
Frontal balding, Hirsutism, Fine hair |
ORPHA:64 |
