Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:616760 |
Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair |
OMIM:617252 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair |
OMIM:617251 |
Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
Palmoplantar Keratoderma, Epidermolytic, 2 |
|
Curly hair |
OMIM:620411 |
Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Curly hair, Patchy hypopig... |
ORPHA:79414 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... |
ORPHA:2891 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Absent eyebrow, Fine hair, Curly hair |
OMIM:615278 |
Naxos Disease |
|
Abnormality of hair texture, Woolly hair, Sparse scalp hair, Curly hair |
ORPHA:34217 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... |
OMIM:602400 |
Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
Chand Syndrome |
|
Nail dysplasia, Curly hair |
OMIM:214350 |
Trichodysplasia-Xeroderma Syndrome |
|
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... |
ORPHA:3361 |
Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... |
ORPHA:2889 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
Monilethrix |
|
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair |
OMIM:158000 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fine hair, Fragile nails |
ORPHA:500166 |
Copper Deficiency, Familial Benign |
|
Early balding, Curly hair |
OMIM:121270 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
Monilethrix |
|
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... |
ORPHA:573 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Synophrys, Coarse hair, Curly hair |
OMIM:616351 |
Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Low posterior hairl... |
ORPHA:163654 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
Hair Defect With Photosensitivity And Impaired Intellectual Development |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:234030 |
Smith-Kingsmore Syndrome |
|
Umbilical hernia, Curly hair |
OMIM:616638 |
Noonan Syndrome 6 |
|
Low posterior hairline, Long eyebrows, Sparse hair, Curly hair |
OMIM:613224 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair |
OMIM:615279 |
Hypotrichosis 7 |
|
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... |
OMIM:604379 |
Cardiofaciocutaneous Syndrome 4 |
|
Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, Sparse hair |
OMIM:615280 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... |
ORPHA:248 |
Noonan Syndrome 5 |
|
Sparse eyebrow, Small nail, Fine hair, Curly hair |
OMIM:611553 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair |
OMIM:616099 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... |
ORPHA:2228 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair |
OMIM:616559 |
Leopard Syndrome 3 |
|
Low posterior hairline, Curly hair |
OMIM:613707 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Synophrys, Sparse eyebrow, Sparse hair, Curly hair |
OMIM:620075 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... |
OMIM:602032 |
Onychotrichodysplasia And Neutropenia |
|
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... |
OMIM:258360 |
Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
Witkop Syndrome |
|
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... |
OMIM:189500 |
Trichodental Dysplasia |
|
Sparse hair, Slow-growing hair, Fine hair, Brittle hair |
OMIM:601453 |
Hypotrichosis 12 |
|
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... |
OMIM:615885 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Hypotrichosis 6 |
|
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair |
OMIM:607903 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair |
OMIM:129490 |
Woolly Hair, Autosomal Dominant |
|
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... |
OMIM:194300 |
Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... |
OMIM:614929 |
Noonan Syndrome 8 |
|
Curly hair |
OMIM:615355 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Highly arched eyebrow, Intrauterine growth retardation, Thick eyebrow, Low posterior hairline, Cu... |
OMIM:617360 |
Choroidal Atrophy-Alopecia Syndrome |
|
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... |
ORPHA:1433 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
Bazex-Dupré-Christol Syndrome |
|
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... |
ORPHA:113 |
Noonan Syndrome 7 |
|
Low posterior hairline, Curly hair |
OMIM:613706 |
Pili Torti, Early-Onset |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... |
OMIM:261900 |
Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... |
OMIM:129500 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... |
OMIM:613573 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair |
ORPHA:1882 |
Trichohepatoenteric Syndrome 1 |
|
Sparse hair, Fine hair, Trichorrhexis nodosa, Intrauterine growth retardation, Large placenta, Cu... |
OMIM:222470 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... |
OMIM:262000 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:211390 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair |
ORPHA:457485 |
Naxos Disease |
|
Subungual hyperkeratosis, Sparse eyebrow, Sparse body hair, Nail dystrophy, Onycholysis, Curly ha... |
OMIM:601214 |
Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes |
OMIM:615896 |
Progeroid Syndrome, Petty Type |
|
Umbilical hernia, Abnormal hair morphology, Intrauterine growth retardation, Thick eyebrow, Long ... |
ORPHA:2963 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Pili torti, Fine hair, Brittle hair |
ORPHA:1573 |
Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... |
ORPHA:2890 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
Noonan Syndrome 4 |
|
Sparse eyebrow, High anterior hairline, Curly hair |
OMIM:610733 |
Craniofrontonasal Syndrome |
|
Umbilical hernia, Breast hypoplasia, Ridged nail, Low posterior hairline, Unilateral breast hypop... |
OMIM:304110 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:104100 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair |
OMIM:617392 |
Oculodentodigital Dysplasia |
|
Fine hair, Umbilical hernia, Abnormal fingernail morphology, Curly hair, Slow-growing hair, Britt... |
ORPHA:2710 |
Noonan Syndrome 14 |
|
Low posterior hairline, Sparse eyebrow, Sparse hair, Curly hair |
OMIM:619745 |
Chops Syndrome |
|
Coarse hair, Long eyelashes, Thick eyebrow, Thick hair, Curly hair, Synophrys |
OMIM:616368 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Trichothiodystrophy 2, Photosensitive |
|
Tiger tail banding, Coarse hair |
OMIM:616390 |
Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys |
ORPHA:1021 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
Trichohepatoenteric Syndrome 2 |
|
Sparse hair, Trichorrhexis nodosa, Intrauterine growth retardation, Uncombable hair, Brittle hair... |
OMIM:614602 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,... |
OMIM:234050 |
Trichohepatoneurodevelopmental Syndrome |
|
Thoracic hypertrichosis, Coarse hair, Long eyelashes, Hypoplastic nipples, Curly hair, Woolly hai... |
OMIM:618268 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Abnormality of hair texture, Nail dysplasia, Nail dystrophy |
OMIM:601957 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyelashes, Low posterior hairline, Absent eyebrow, Slow-growing hair, Curly hair, Sparse hair |
OMIM:115150 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, Low posterior... |
OMIM:617506 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
Tricho-Retino-Dento-Digital Syndrome |
|
Sparse hair, Uncombable hair |
ORPHA:1264 |
Hypotrichosis Simplex Of The Scalp |
|
Slow-growing scalp hair, Sparse scalp hair, Alopecia of scalp, Fine hair |
ORPHA:90368 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma |
OMIM:301845 |
Mucopolysaccharidosis, Type Iiia |
|
Hirsutism, Coarse hair, Umbilical hernia, Synophrys |
OMIM:252900 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Intrauterine growth retardation, Alopecia, Brittle hair |
ORPHA:50812 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Brittle hair, Coarse hair |
ORPHA:1883 |
Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Craniofrontonasal Dysplasia |
|
Ridged fingernail, Low posterior hairline, Abnormality of hair texture, Woolly hair, Widow's peak |
ORPHA:1520 |
Woolly Hair-Skin Fragility Syndrome |
|
Woolly hair |
OMIM:620415 |
Acquired Hypertrichosis Lanuginosa |
|
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
Weaver Syndrome |
|
Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Thin nail, Deep-set nails |
ORPHA:3447 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair |
OMIM:619691 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Intrauterine growth retardation,... |
OMIM:300953 |
Noonan Syndrome 10 |
|
Sparse eyebrow, Curly hair |
OMIM:616564 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Mild intrauterine growth retardation, Slow-growing hair, Brittle hair |
OMIM:616943 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Loose anagen hair, Long eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:607721 |
Peeling Skin Syndrome 1 |
|
Onycholysis, Nail dystrophy, Brittle hair |
OMIM:270300 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Long eyelashes, Fine hair, High anterior hairline |
ORPHA:231137 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Horizontal eyebrow, Widow's peak, Fine hair |
OMIM:615828 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Intrauterine growth retardation, Nail dystrophy, Brittle hair |
ORPHA:75389 |
Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
Acrogeria |
|
Fine hair |
ORPHA:2500 |
Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Nail dystrophy, Nail dysplasia, Sparse scalp ... |
OMIM:167210 |
Distal Duplication 6P |
|
Abnormal eyelash morphology, Fine hair, Intrauterine growth retardation, Abnormal hair quantity |
ORPHA:1745 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Sparse hair, Fine hair |
ORPHA:1839 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Intrauterine growth retardation, Alopecia, Encephalocele, Fine hair |
ORPHA:228390 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Leukonychia, Woolly hair, Nail dystrophy, Fragile nails |
OMIM:615821 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, Abnormal fingernail morphology, Facial hirsutism, Long eyelashes, Thick ey... |
ORPHA:444077 |
Menkes Disease |
|
Intrauterine growth retardation, Alopecia, Sparse hair, Brittle hair |
OMIM:309400 |
Chand Syndrome |
|
Nail dysplasia, Curly hair |
ORPHA:1401 |
Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal hair morphology, Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3082 |
Gorlin-Chaudhry-Moss Syndrome |
|
Generalized hirsutism, Coarse hair, Umbilical hernia, Low anterior hairline |
ORPHA:2095 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Fine hair |
ORPHA:1028 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Umbilical hernia |
ORPHA:3079 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High anterior hairline, Horizontal eyebrow, Sparse lateral eyebrow, Long eyelashes, Thick eyebrow... |
OMIM:619950 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
Netherton Syndrome |
|
Sparse eyebrow, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Sparse eyelashes, Spar... |
ORPHA:634 |
Olmsted Syndrome 2 |
|
Alopecia universalis, Sparse hair, Woolly hair |
OMIM:619208 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Abnormality of hair texture, Intrauterine growth retardation, Coarse hair, Brittle hair |
OMIM:219200 |
Noonan Syndrome 2 |
|
Low posterior hairline, Sparse eyebrow, Curly hair |
OMIM:605275 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Spina bifida occulta, Coarse hair |
ORPHA:1185 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Absent nipple, Brittle hair, Absent hair |
OMIM:614940 |
Mucopolysaccharidosis, Type Iiib |
|
Hirsutism, Coarse hair, Synophrys |
OMIM:252920 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Intrauterine growth retardation, Sparse hair, Fine hair |
OMIM:616817 |
Tonne-Kalscheuer Syndrome |
|
Small nail, Fine hair, Concave nail |
OMIM:300978 |
Fetal Hydantoin Syndrome |
|
Low posterior hairline, Intrauterine growth retardation, Coarse hair, Hypoplastic fingernail |
ORPHA:1912 |
Zttk Syndrome |
|
Broad eyebrow, Sparse eyebrow, Intrauterine growth retardation, Curly hair |
OMIM:617140 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Brittle hair, Synophrys |
OMIM:617412 |
Mucopolysaccharidosis, Type Iiic |
|
Hirsutism, Hypertrichosis, Coarse hair, Synophrys |
OMIM:252930 |
Hall-Riggs Syndrome |
|
Coarse hair, Thick hair, Slow-growing hair |
ORPHA:2107 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittle hair, Progressive... |
OMIM:225060 |
Rapp-Hodgkin Syndrome |
|
Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ... |
OMIM:129400 |
Netherton Syndrome |
|
Brittle scalp hair, Sparse eyebrow, Sparse scalp hair, Brittle hair |
OMIM:256500 |
19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Intrauterine growth retardation, Sparse ... |
ORPHA:217346 |
Trichothiodystrophy 1, Photosensitive |
|
Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Trichoschisis, P... |
OMIM:601675 |
Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai... |
OMIM:257980 |
Trichothiodystrophy 3, Photosensitive |
|
Trichorrhexis nodosa, Intrauterine growth retardation, Tiger tail banding, Brittle hair |
OMIM:616395 |
Adult Syndrome |
|
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H... |
ORPHA:978 |
Costello Syndrome |
|
Curly hair, Concave nail, Thin nail, Deep-set nails, Sparse hair, Fragile nails |
OMIM:218040 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Fine hair, Intrauterine growth retardation, Low anterior hairline, Sparse hair, Synophrys |
ORPHA:391408 |
Acrofacial Dysostosis, Catania Type |
|
Spina bifida occulta, Intrauterine growth retardation, Abnormal hair pattern, Coarse hair |
ORPHA:1786 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Sparse eyebrow, Brittle hair |
OMIM:618810 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Hirsutism, Low anterior hairline, Broad eyebrow, Woolly hair |
OMIM:619244 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Fine hair, Synophrys |
OMIM:619428 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow, Fine hair |
OMIM:190351 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Woolly hair |
OMIM:605676 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture, Intrauterine growth retardation, Umbilical hernia |
ORPHA:79351 |
Jaberi-Elahi Syndrome |
|
Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:617988 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse lateral eyebrow, Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
ORPHA:3353 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Nail dystrophy, Brittle hair |
ORPHA:93947 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring alopecia of scalp, Abnor... |
ORPHA:35173 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Intrauterine growth retardation, Fine hair |
ORPHA:363686 |
Frontonasal Dysplasia 2 |
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Sparse eyebrow, Fine hair, Alopecia totalis, Intrauterine growth retardation, Encephalocele, Spar... |
OMIM:613451 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
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Woolly hair |
OMIM:610193 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
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High anterior hairline, Dry hair, Coarse hair, Nail dystrophy, Woolly scalp hair, Onycholysis, Sp... |
OMIM:620519 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Thoracic hypertrichosis, High anterior hairline, Horizontal eyebrow, Medial flaring of the eyebro... |
OMIM:619503 |
Costello Syndrome |
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Abnormal hair morphology, Abnormal fingernail morphology, Hypoplastic toenails, Deep-set nails, C... |
ORPHA:3071 |
Ectodermal Dysplasia-Blindness Syndrome |
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Abnormal fingernail morphology, Sparse hair, Fine hair |
ORPHA:1806 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
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Long eyelashes, Fine hair, Synophrys |
OMIM:620250 |
Incontinentia Pigmenti |
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Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... |
OMIM:308300 |
Trisomy 20P |
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Highly arched eyebrow, Coarse hair, Umbilical hernia, Thick eyebrow, Low anterior hairline, Low p... |
ORPHA:261318 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Intrauterine growth retardation, Sparse eyebrow, Broad lateral eyebrow, Curly hair |
ORPHA:500150 |
Trichorhinophalangeal Syndrome, Type I |
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Sparse lateral eyebrow, Fine hair, Thin eyebrow, Leukonychia, Concave nail, Slow-growing hair, Th... |
OMIM:190350 |
Cerebrofaciothoracic Dysplasia |
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Coarse hair, Thick eyebrow, Low posterior hairline, Abnormal hair pattern, Synophrys |
ORPHA:1394 |
Mucoepithelial Dysplasia, Hereditary |
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Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158310 |
Galloway-Mowat Syndrome 9 |
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Coarse hair |
OMIM:619603 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Abnormality of hair texture |
ORPHA:88618 |
Ogden Syndrome |
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Fine hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:276432 |
Revesz Syndrome |
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Ridged fingernail, Fine hair, Intrauterine growth retardation, Nail dystrophy, Sparse hair, Nail ... |
OMIM:268130 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Hypoplastic nipples, Hypertrichosis, Curly hair |
ORPHA:480880 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Nail dysplasia, Sparse hair, Fine hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
Cartilage-Hair Hypoplasia |
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Sparse eyebrow, Fair hair, Fine hair, Sparse eyelashes, Sparse facial hair, Sparse hair |
OMIM:250250 |
Multiple Sulfatase Deficiency |
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Coarse hair, Thick eyebrow |
ORPHA:585 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
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Intrauterine growth retardation, Sparse hair, Fine hair |
OMIM:614438 |
Koolen-De Vries Syndrome |
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Abnormality of hair texture, Hypopigmentation of hair |
ORPHA:96169 |
Chondrodysplasia Punctata, Autosomal Dominant |
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Sparse hair, Coarse hair |
OMIM:118650 |
Macrocephaly/Autism Syndrome |
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Coarse hair |
OMIM:605309 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
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Alopecia, Fine hair, Premature graying of hair, Intrauterine growth retardation, Nail dystrophy, ... |
OMIM:613990 |
Mucopolysaccharidosis-Plus Syndrome |
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Coarse hair, Long eyelashes, Low anterior hairline, Low posterior hairline, Hirsutism, Synophrys |
OMIM:617303 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Concave nail, Sparse eyelashes, Absen... |
OMIM:305100 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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Brittle hair |
OMIM:236200 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
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Thick eyebrow, Fine hair |
OMIM:614800 |
Lateral Meningocele Syndrome |
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Meningocele, Coarse hair, Umbilical hernia |
OMIM:130720 |
Trichothiodystrophy |
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Aplasia/Hypoplasia of the nails, Umbilical hernia, Ridged nail, Tiger tail banding, Alopecia of s... |
ORPHA:33364 |
Mucopolysaccharidosis, Type Vii |
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Umbilical hernia, Coarse hair, Thick eyebrow, Hirsutism |
OMIM:253220 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Alopecia, Sparse hair, Brittle hair |
OMIM:608612 |
Bcard Syndrome |
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Nail dysplasia, Intrauterine growth retardation, Coarse hair |
OMIM:612394 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Hyperconvex fingernails, S... |
ORPHA:1071 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
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Intrauterine growth retardation, Sparse hair, Thick hair, Coarse hair |
ORPHA:357074 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
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Aplastic/hypoplastic toenail, Aplasia/Hypoplasia of the eyebrow, Fine hair, Supernumerary nipple |
ORPHA:1812 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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Intrauterine growth retardation, Brittle hair |
OMIM:619184 |
Schimke Immunoosseous Dysplasia |
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Intrauterine growth retardation, Coarse hair, Fine hair |
OMIM:242900 |
Weaver Syndrome |
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Fine hair, Umbilical hernia, Thin nail, Deep-set nails, Sparse hair |
OMIM:277590 |
Koolen-De Vries Syndrome |
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Abnormality of hair texture, Intrauterine growth retardation, Fair hair |
OMIM:610443 |
Ablepharon Macrostomia Syndrome |
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Fine hair, Umbilical hernia, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent e... |
ORPHA:920 |
Cardiofaciocutaneous Syndrome |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Low posterior hairline,... |
ORPHA:1340 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Fine hair, Premature graying of hair, Intrauterine growth retardation, Nail dystrophy, Nail dyspl... |
OMIM:612199 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
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Intrauterine growth retardation, Sparse hair, Fine hair, Brittle hair |
OMIM:618891 |
Hallermann-Streiff Syndrome |
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Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of hair texture, Sparse... |
ORPHA:2108 |
Nicolaides-Baraitser Syndrome |
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Dry hair, Sparse medial eyebrow, Hypertrichosis, Umbilical hernia, Long eyelashes, Intrauterine g... |
OMIM:601358 |
Diamond-Blackfan Anemia 21 |
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Coarse hair, Horizontal eyebrow, Widow's peak, Synophrys |
OMIM:620072 |
Argininosuccinic Aciduria |
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Trichorrhexis nodosa, Dry hair, Brittle hair |
OMIM:207900 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Fine hair, Sparse eyelashes |
OMIM:257850 |
2P15P16.1 Microdeletion Syndrome |
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Sparse eyebrow, Fine hair, Supernumerary nipple, Long eyelashes, Intrauterine growth retardation |
ORPHA:261349 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Dry hair, Low anterior hairline |
OMIM:618569 |
Cranioectodermal Dysplasia 3 |
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Short nail, Sparse hair, Fine hair, Broad nail |
OMIM:614099 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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White hair, Fine hair |
ORPHA:935 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Intrauterine growth retardation, Fine hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2637 |
Opitz-Kaveggia Syndrome |
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Sparse hair, Frontal upsweep of hair, Fine hair, Umbilical hernia |
OMIM:305450 |
Hallermann-Streiff Syndrome |
|
Sparse eyebrow, Fine hair, Sparse eyelashes, Spina bifida, Sparse hair, Sparse scalp hair |
OMIM:234100 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:85201 |
Mucopolysaccharidosis, Type Iiid |
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Coarse hair, Facial hirsutism, Thick eyebrow, Hirsutism, Synophrys |
OMIM:252940 |
Menkes Disease |
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Sparse hair, Umbilical hernia, Intrauterine growth retardation, Hypopigmentation of hair, Woolly ... |
ORPHA:565 |
Syndromic Diarrhea |
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Trichorrhexis nodosa, Intrauterine growth retardation, Uncombable hair, Brittle hair, Hypopigment... |
ORPHA:84064 |
Mucolipidosis Type Ii |
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Fine hair, Dry hair, White hair, Umbilical hernia |
ORPHA:576 |
Dubowitz Syndrome |
|
Sparse lateral eyebrow, Fine hair, Abnormal fingernail morphology, Intrauterine growth retardatio... |
ORPHA:235 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Fine hair |
OMIM:616202 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair |
ORPHA:1974 |
Oculodentodigital Dysplasia |
|
Dry hair, Fine hair, Slow-growing hair, Sparse hair, Fragile nails |
OMIM:164200 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Fine hair |
ORPHA:251028 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
OMIM:607812 |
Mucopolysaccharidosis Type 3 |
|
Coarse hair, Umbilical hernia, Hirsutism, Generalized hirsutism, Thick hair, Synophrys |
ORPHA:581 |
Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Myelopathy, Umbilical hernia, Brittle hair, Sparse hair |
OMIM:252500 |
Eec Syndrome |
|
Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Nail dystrophy, Slow-growing hair, Nail pits |
ORPHA:1896 |
Hajdu-Cheney Syndrome |
|
Coarse hair, Umbilical hernia, Abnormal fingernail morphology, Thick eyebrow, Low anterior hairli... |
ORPHA:955 |
Cerebellar-Facial-Dental Syndrome |
|
Sparse eyebrow, Sparse hair, Fine hair |
ORPHA:444072 |
Marshall-Smith Syndrome |
|
Highly arched eyebrow, Hypertrichosis, Umbilical hernia, Thick eyebrow, Brittle hair, Sparse hair... |
OMIM:602535 |
Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair, Myelomeningocele |
OMIM:311200 |
Adrenomyeloneuropathy |
|
Frontal balding, Fine hair |
ORPHA:139399 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Umbilical hernia, Hypoplastic nipples, ... |
OMIM:280000 |
Fontaine Progeroid Syndrome |
|
Absent nipple, Coarse hair, Small nail, Hypertrichosis, Umbilical hernia, Intrauterine growth ret... |
OMIM:612289 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Low posterior hairline, Highly arched eyebrow, Sparse hair, Fine hair |
OMIM:613563 |
Scalp-Ear-Nipple Syndrome |
|
Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Sparse axillary ha... |
OMIM:181270 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Sparse hair, Fine hair |
OMIM:241080 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Sparse scalp hair |
OMIM:614748 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Sparse hair, Coarse hair, Brittle hair |
ORPHA:2750 |
Cockayne Syndrome B |
|
Abnormal hair morphology, Intrauterine growth retardation, Sparse hair, Dry hair |
OMIM:133540 |
Lysinuric Protein Intolerance |
|
Sparse hair, Fine hair |
OMIM:222700 |
Melnick-Needles Syndrome |
|
Frontal hirsutism, Coarse hair, Stillbirth |
OMIM:309350 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Thick eyebrow, Hypoplastic sweat glands, Synophrys |
ORPHA:73223 |
Cranioectodermal Dysplasia 1 |
|
Short nail, Fine hair, Slow-growing hair, Thin nail, Sparse hair |
OMIM:218330 |
Coffin-Siris Syndrome 1 |
|
Facial hypertrichosis, Dry hair, Hypertrichosis, Umbilical hernia, Long eyelashes, Hypoplastic fi... |
OMIM:135900 |
Focal Dermal Hypoplasia |
|
Supernumerary nipple, Myelomeningocele, Umbilical hernia, Ridged nail, Absent toenail, Nail dystr... |
OMIM:305600 |
Chime Syndrome |
|
Sparse hair, Fine hair |
ORPHA:3474 |
Myhre Syndrome |
|
Intrauterine growth retardation, Sparse hair, Thick eyebrow, Fine hair |
OMIM:139210 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture |
ORPHA:667 |
Cockayne Syndrome A |
|
Sparse hair, Intrauterine growth retardation, Dry hair |
OMIM:216400 |
Neuroocular Syndrome 1 |
|
Highly arched eyebrow, Small nail, Umbilical hernia, Long eyelashes, Thick eyebrow, Distichiasis,... |
OMIM:619539 |
Occipital Horn Syndrome |
|
Pili torti, Coarse hair |
OMIM:304150 |
Ogden Syndrome |
|
Sparse eyebrow, Fine hair, Umbilical hernia, Intrauterine growth retardation, Long eyelashes |
OMIM:300855 |
Noonan Syndrome |
|
Low posterior hairline, Coarse hair, Abnormal hair quantity |
ORPHA:648 |
Cockayne Syndrome Type 3 |
|
Dry hair, Premature graying of hair |
ORPHA:90324 |
Distal Deletion 12Q |
|
Small nail, Fine hair |
ORPHA:96149 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Fine hair, Umbilical hernia |
ORPHA:534 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Neonatal death, Brittle hair |
OMIM:124000 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse eyebrow, Fine hair, Intrauterine growth retardation, Sparse eyelashes, Stillbirth, Sparse ... |
OMIM:210710 |
Renpenning Syndrome 1 |
|
Sparse hair, Sparse lateral eyebrow, Brittle hair |
OMIM:309500 |
Occipital Horn Syndrome |
|
Coarse hair, Thick hair |
ORPHA:198 |
Cockayne Syndrome |
|
Dry hair, Fine hair |
ORPHA:191 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Intrauterine growth retardation, Coarse hair |
ORPHA:83617 |
Coffin-Lowry Syndrome |
|
Hyperconvex fingernails, Highly arched eyebrow, Coarse hair, Thick eyebrow |
OMIM:303600 |
Witteveen-Kolk Syndrome |
|
High anterior hairline, Branchial fistula, Fine hair, Intrauterine growth retardation, Medial fla... |
OMIM:613406 |
Liver Disease, Severe Congenital |
|
Intrauterine growth retardation, Dry hair, Nail dystrophy, Umbilical hernia |
OMIM:619991 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Umbilical hernia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair texture, Abnor... |
ORPHA:286 |
Noonan Syndrome 1 |
|
Low posterior hairline, Woolly hair |
OMIM:163950 |
Alström Syndrome |
|
Frontal balding, Fine hair, Hirsutism |
ORPHA:64 |