Pili Gemini |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... |
ORPHA:79492 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... |
ORPHA:3361 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair |
OMIM:617251 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyebrow, Brittle hair, Coarse hair, Sparse eyelashes, Sparse hair |
OMIM:234030 |
Hypotrichosis 4 |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes |
OMIM:146550 |
Witkop Syndrome |
|
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair |
OMIM:189500 |
Woolly Hair, Autosomal Dominant |
|
Dry hair, Abnormal eyebrow morphology, Woolly hair, Abnormal eyelash morphology, Coarse hair, Slo... |
OMIM:194300 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Pili Torti, Early-Onset |
|
Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and... |
OMIM:261900 |
Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair |
OMIM:617252 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair |
OMIM:616760 |
Bjornstad Syndrome |
|
Alopecia, Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular int... |
OMIM:262000 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyel... |
ORPHA:2891 |
Trichothiodystrophy 2, Photosensitive |
|
Tiger tail banding, Coarse hair |
OMIM:616390 |
Bazex-Dupré-Christol Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, Coarse hair, Sparse hair, Sp... |
ORPHA:113 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Monilethrix |
|
Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy |
OMIM:158000 |
Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... |
ORPHA:2889 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Hypoplastic toenails, Small nail, Sparse scalp hair, Pili torti, Absent facial hair, Pa... |
OMIM:613573 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... |
OMIM:602032 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Amaurosis-Hypertrichosis Syndrome |
|
Synophrys, Thick eyebrow, Abnormal eyelash morphology, Coarse hair |
ORPHA:1021 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Hypotrichosis 12 |
|
Dry hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse or absent eyelashes, Slow-growin... |
OMIM:615885 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Coarse hair, Sparse hair, Brittle hair |
ORPHA:1883 |
Crandall Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Brittle hair, Fine hair |
ORPHA:202 |
Bazex Syndrome |
|
Trichorrhexis nodosa, Pili torti, Coarse hair, Trichoepithelioma, Sparse hair |
OMIM:301845 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyelashes |
OMIM:616099 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dysplasia, Sparse hair, Nail dystrophy |
OMIM:211390 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m... |
ORPHA:573 |
Hypotrichosis 7 |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal... |
OMIM:604379 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Trichodental Dysplasia |
|
Slow-growing hair, Sparse hair, Fine hair, Brittle hair |
OMIM:601453 |
Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Sparse eyelashes, Sparse hair, Woolly hair |
OMIM:615896 |
Hypotrichosis 6 |
|
Sparse eyebrow, Pili torti, Brittle hair, Sparse eyelashes, Sparse hair |
OMIM:607903 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Abnormal hair m... |
ORPHA:248 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor... |
OMIM:614929 |
Loose Anagen Syndrome |
|
Abnormal hair morphology, Abnormal hair whorl |
ORPHA:168 |
Choroidal Atrophy-Alopecia Syndrome |
|
Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Ung... |
ORPHA:1433 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hearing impairment, Hypercholester... |
OMIM:144300 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Dystrophic toenail, Woolly hair |
OMIM:619209 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Synophrys, Curly hair, Coarse hair |
OMIM:616351 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypoplastic toenails, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Hypopla... |
ORPHA:2228 |
Chand Syndrome |
|
Nail dysplasia, Curly hair |
OMIM:214350 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Nail dystrophy, Coarse hair |
ORPHA:75389 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse eyebrow, Fine hair, Sparse hair, Sparse eyelashes, Ridged nail, Slow-growing hair |
OMIM:129490 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Hirsutism, Coarse hair |
OMIM:252920 |
Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Hirsutism, Coarse hair |
OMIM:252900 |
Nail Disorder, Nonsyndromic Congenital, 3 |
|
Abnormal hair morphology, Leukonychia, Concave nail |
OMIM:151600 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:104100 |
Hall-Riggs Syndrome |
|
Slow-growing hair, Thick hair, Coarse hair |
ORPHA:2107 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Decreased body weight, Failure to thrive |
ORPHA:99852 |
Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Hirsutism, Hypertrichosis, Coarse hair |
OMIM:252930 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Fine hair, Dystrophic fingernails |
ORPHA:1882 |
Pilodental Dysplasia With Refractive Errors |
|
Brittle scalp hair, Sparse scalp hair, Abnormality of the nail, Brittle hair |
OMIM:262020 |
Naxos Disease |
|
Abnormality of hair texture, Sparse scalp hair, Curly hair, Woolly hair |
ORPHA:34217 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Abnormality of the... |
ORPHA:90368 |
Fetal Hydantoin Syndrome |
|
Hypoplastic fingernail, Low posterior hairline, Coarse hair |
ORPHA:1912 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Pili torti, Fine hair, Brittle hair |
ORPHA:1573 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair |
OMIM:617392 |
Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Brittle hair, Alopecia totalis, Fine hair, Onycholysis, Nai... |
OMIM:129500 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia |
OMIM:608320 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Sparse hair, Fine hair |
OMIM:615278 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Pili Torti-Onychodysplasia Syndrome |
|
Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Trichodysplasia... |
ORPHA:2890 |
Gorlin-Chaudhry-Moss Syndrome |
|
Generalized hirsutism, Low anterior hairline, Coarse hair |
ORPHA:2095 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Scarring alopecia of scalp, Abnormality of the nail, Abnormal hair pattern, Patch... |
ORPHA:35173 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Abnormality of hair texture, Brittle hair, Coarse hair |
OMIM:219200 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Sparse eyebrow, Progressive hypotrichosis, Brittle hair, Nail dysplasia, Sparse eyelashes, Abnorm... |
OMIM:225060 |
Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Curly eyelashes, Sparse e... |
OMIM:602400 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Alopecia, Breast aplasia, Supernumerary nipple, Fine hair, Nail pits, ... |
OMIM:308300 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Chronic monilial nail infection, Nail dysplasia, Coarse hair, Sparse hair, Nail dystrophy |
OMIM:158310 |
Cerebrofaciothoracic Dysplasia |
|
Coarse hair, Synophrys, Abnormal hair pattern, Low posterior hairline, Thick eyebrow |
ORPHA:1394 |
Copper Deficiency, Familial Benign |
|
Early balding, Curly hair |
OMIM:121270 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Acrofacial Dysostosis, Catania Type |
|
Abnormal hair pattern, Coarse hair |
ORPHA:1786 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hyperc... |
OMIM:615703 |
Multiple Sulfatase Deficiency |
|
Thick eyebrow, Coarse hair |
ORPHA:585 |
Macrocephaly/Autism Syndrome |
|
Coarse hair |
OMIM:605309 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Generalized lipodystrophy, Hypercholesterolem... |
OMIM:612526 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... |
OMIM:616000 |
Chops Syndrome |
|
Curly hair, Synophrys, Long eyelashes, Coarse hair, Thick eyebrow, Thick hair |
OMIM:616368 |
Mucopolysaccharidosis-Plus Syndrome |
|
Coarse hair, Synophrys, Long eyelashes, Hirsutism, Low posterior hairline, Low anterior hairline |
OMIM:617303 |
Skin Fragility-Woolly Hair Syndrome |
|
Alopecia, Sparse eyebrow, Woolly hair, Sparse eyelashes, Nail dystrophy |
OMIM:607655 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Dystrophic toenail, Sparse eyebrow, Supernumerary nipple, Hyperconvex nail, Hyperconvex fingernai... |
ORPHA:1071 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Small nail, Trichorrhexis nodosa, Brittle hair, Woolly hair, Nail dysplasia, Concave nail, Sparse... |
OMIM:234050 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Brittle hair, Coarse hair |
ORPHA:50814 |
Trisomy 20P |
|
Coarse hair, Low posterior hairline, Thick eyebrow, Highly arched eyebrow, Low anterior hairline,... |
ORPHA:261318 |
Diamond-Blackfan Anemia 21 |
|
Synophrys, Horizontal eyebrow, Widow's peak, Coarse hair |
OMIM:620072 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dysplasia, Nail dystrophy, Abnormality of hair texture |
OMIM:601957 |
Schimke Immunoosseous Dysplasia |
|
Fine hair, Coarse hair |
OMIM:242900 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Nail dysplasia, Coarse hair |
OMIM:612394 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Woolly hair |
OMIM:605676 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Ankle fle... |
OMIM:617519 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Trichorrhexis nodosa, Sparse pubic hair, Hypoplastic fingernail, Concave nail, Curly ... |
OMIM:258360 |
Peeling Skin Syndrome 1 |
|
Onycholysis, Nail dystrophy, Brittle hair |
OMIM:270300 |
Mucopolysaccharidosis, Type Vii |
|
Thick eyebrow, Hirsutism, Coarse hair |
OMIM:253220 |
Trichohepatoenteric Syndrome 2 |
|
Trichorrhexis nodosa, Brittle hair, Woolly hair, Uncombable hair, Sparse hair |
OMIM:614602 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Thick hair, Coarse hair |
ORPHA:357074 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
Acquired Hypertrichosis Lanuginosa |
|
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Mucopolysaccharidosis, Type Iiid |
|
Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow |
OMIM:252940 |
Growth Hormone Insensitivity Syndrome |
|
Fine hair, Abnormality of the nail |
ORPHA:181393 |
Pachyonychia Congenita 2 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Nail dysplasia, Subungual hyperkeratosis, Nail dystr... |
OMIM:167210 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair |
OMIM:616943 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Synophrys, Long eyelashes, Woolly hair, Thoracic hypertrichosis, Coarse hair, Hypopla... |
OMIM:618268 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair |
ORPHA:1974 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Large... |
OMIM:600501 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... |
OMIM:619868 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
High anterior hairline, Curly hair, Sparse lateral eyebrow, Coarse hair, Highly arched eyebrow, L... |
OMIM:617506 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Brittle hair, Coarse hair |
OMIM:607812 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Absent hair, Absent nipple, Sparse hair, Brittle hair |
OMIM:614940 |
Lateral Meningocele Syndrome |
|
Coarse hair |
OMIM:130720 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Trichorrhexis nodosa, Sparse eyebrow, Sparse hair, Woolly hair |
OMIM:619691 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Nail dystrophy, Fragile nails, Leukonychia, Woolly hair |
OMIM:615821 |
Eec Syndrome |
|
Sparse eyebrow, Fine hair, Nail pits, Coarse hair, Thick eyebrow, Nail dystrophy, Slow-growing hair |
ORPHA:1896 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Long eyelashes in irregular rows, Abnormality of the nail, Generalized hirsutism, A... |
ORPHA:2963 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Olmsted Syndrome 2 |
|
Alopecia universalis, Sparse hair, Woolly hair |
OMIM:619208 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Sparse hair, Fine hair |
ORPHA:1839 |
Craniofrontonasal Dysplasia |
|
Widow's peak, Ridged fingernail, Woolly hair, Low posterior hairline, Abnormality of hair texture |
ORPHA:1520 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Fine hair |
ORPHA:1028 |
Weaver Syndrome |
|
Hypoplastic toenails, Fine hair, Deep-set nails, Abnormal fingernail morphology, Thin nail |
ORPHA:3447 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Acrogeria |
|
Fine hair |
ORPHA:2500 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
Mucopolysaccharidosis Type 3 |
|
Synophrys, Hirsutism, Coarse hair, Generalized hirsutism, Thick hair |
ORPHA:581 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Brittle hair, Reduced hair sulfur content, Sparse hair, Slow-... |
OMIM:300953 |
Giant Axonal Neuropathy |
|
Pili canaliculi, Woolly hair |
ORPHA:643 |
Noonan Syndrome |
|
Low posterior hairline, Abnormal hair quantity, Coarse hair |
ORPHA:648 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Sparse hair, Coarse hair |
ORPHA:2750 |
Hajdu-Cheney Syndrome |
|
Synophrys, Abnormal fingernail morphology, Coarse hair, Thick eyebrow, Generalized hirsutism, Low... |
ORPHA:955 |
Netherton Syndrome |
|
Brittle scalp hair, Sparse scalp hair, Sparse eyebrow, Brittle hair |
OMIM:256500 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Congenital Analbuminemia |
|
Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem... |
ORPHA:86816 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Reduced subcutaneous adipose tissue, Adipose tissue loss, Increa... |
OMIM:151660 |
Mandibuloacral Dysplasia |
|
Contractures of the large joints, Increased circulating free fatty acid level, Increased adipose ... |
ORPHA:2457 |
Adult Syndrome |
|
Alopecia, Toenail dysplasia, Sparse scalp hair, Fingernail dysplasia, Absent nipple, Abnormality ... |
ORPHA:978 |
Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
Occipital Horn Syndrome |
|
Pili torti, Coarse hair |
OMIM:304150 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Uncombable hair, Slow-growing hair |
ORPHA:3082 |
Arthrogryposis, Distal, Type 2A |
|
Knee flexion contracture, Wrist flexion contracture, Hip contracture, Hernia, Joint contracture o... |
OMIM:193700 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, Small for gestational age, Overw... |
OMIM:616222 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
Melnick-Needles Syndrome |
|
Frontal hirsutism, Coarse hair |
OMIM:309350 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair |
OMIM:616559 |
Netherton Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Abnormal hair morphology, Spa... |
ORPHA:634 |
Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Odontoonychodermal Dysplasia |
|
Sparse body hair, Dystrophic toenail, Dry hair, Sparse scalp hair, Sparse eyebrow, Short nail, Fi... |
OMIM:257980 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse lateral eyebrow, Brittle hair, Fine ... |
ORPHA:3353 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Menkes Disease |
|
Alopecia, Sparse hair, Brittle hair |
OMIM:309400 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Multiple rows of eyelashes, Nail dysplasia, Low posterior hairline, Curly eyelashes, ... |
ORPHA:163654 |
Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Small nail, Coarse hair, Synophrys, Absent nipple, Low posterior hairline, Hyp... |
OMIM:612289 |
Distal Trisomy 6P |
|
Abnormal hair quantity, Abnormal eyelash morphology, Fine hair |
ORPHA:1745 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Synophrys, Long eyelashes, Thick eyebrow, Highly arched eyebrow |
OMIM:617412 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair |
OMIM:615279 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... |
ORPHA:1215 |
Rapp-Hodgkin Syndrome |
|
Sparse eyebrow, Small nail, Supernumerary nipple, Fine hair, Onychogryposis, Decreased number of ... |
OMIM:129400 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Nail dystrophy, Brittle hair |
ORPHA:93947 |
Noonan Syndrome 6 |
|
Long eyebrows, Curly hair, Sparse hair, Low posterior hairline |
OMIM:613224 |
Cardiofaciocutaneous Syndrome 4 |
|
Curly hair, Alopecia of scalp, Absent eyebrow, Sparse eyelashes, Sparse hair |
OMIM:615280 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
Occipital Horn Syndrome |
|
Thick hair, Coarse hair |
ORPHA:198 |
Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:201050 |
Trichothiodystrophy 1, Photosensitive |
|
Small nail, Tiger tail banding, Pili torti, Trichorrhexis nodosa, Brittle hair, Fine hair, Fragil... |
OMIM:601675 |
Galactokinase Deficiency |
|
Hypergalactosemia, Sensorineural hearing impairment, Increased level of galactitol in plasma, Sma... |
ORPHA:79237 |
Noonan Syndrome 5 |
|
Fine hair, Small nail, Sparse eyebrow, Curly hair |
OMIM:611553 |
Smith-Magenis Syndrome |
|
EEG abnormality, Hypercholesterolemia, Hypertriglyceridemia, Morphological abnormality of the mid... |
OMIM:182290 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hyp... |
OMIM:605814 |
Leukodystrophy, Hypomyelinating, 13 |
|
Failure to thrive, Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy |
OMIM:616881 |
Tonne-Kalscheuer Syndrome |
|
Concave nail, Small nail, Fine hair |
OMIM:300978 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529808 |
Ataxia-Oculomotor Apraxia 4 |
|
Obesity, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:616267 |
Coffin-Lowry Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair |
OMIM:303600 |
Leopard Syndrome 3 |
|
Curly hair, Low posterior hairline |
OMIM:613707 |
Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Increased LDL chole... |
OMIM:277460 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... |
OMIM:207750 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Adipose tissue loss, Lipodystrophy, Failure to thrive, Hypercholestero... |
ORPHA:528 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Obesity, Hypercholesterolemia |
ORPHA:254531 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Sparse hair |
OMIM:619980 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Fine hair |
OMIM:616817 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Truncal obesity, Hypercholesterolemia, Hypertriglyceride... |
OMIM:615812 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Sparse hair, Fine hair |
ORPHA:1806 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coarse hair |
ORPHA:83617 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment |
OMIM:619260 |
Revesz Syndrome |
|
Fine hair, Nail pits, Ridged fingernail, Sparse hair, Nail dystrophy |
OMIM:268130 |
Jaberi-Elahi Syndrome |
|
Sparse eyebrow, Brittle hair, Fine hair, Sparse eyelashes, Sparse hair |
OMIM:617988 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Broad eyebrow, Woolly hair, Hirsutism, Highly arched eyebrow, Low anterior hairline |
OMIM:619244 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Synophrys, Curly hair, Sparse hair, Sparse eyebrow |
OMIM:620075 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Supernumerary nipple, Fine hair, Nail dysplasia, Sparse hair, Sparse or a... |
ORPHA:217346 |
Trichothiodystrophy 3, Photosensitive |
|
Trichorrhexis nodosa, Tiger tail banding, Brittle hair |
OMIM:616395 |
Trichorhinophalangeal Syndrome, Type I |
|
Sparse lateral eyebrow, Leukonychia, Thin eyebrow, Fine hair, Thin nail, Concave nail, Sparse hai... |
OMIM:190350 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Fine hair |
OMIM:619428 |
Naxos Disease |
|
Sparse body hair, Sparse eyebrow, Curly hair, Woolly hair, Onycholysis, Subungual hyperkeratosis,... |
OMIM:601214 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Synophrys, Sparse hair, Low anterior hairline, Fine hair |
ORPHA:391408 |
Costello Syndrome |
|
Hypoplastic toenails, Deep-set nails, Woolly hair, Abnormal fingernail morphology, Concave nail, ... |
ORPHA:3071 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair |
OMIM:618810 |
Laron Syndrome |
|
Hypercholesterolemia, Truncal obesity |
ORPHA:633 |
Noonan Syndrome 8 |
|
Curly hair |
OMIM:615355 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Smith-Kingsmore Syndrome |
|
Curly hair |
OMIM:616638 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Cockayne Syndrome Type 1 |
|
Enamel hypoplasia, Foot joint contracture, Macrotia, Abnormality of peripheral nerve conduction, ... |
ORPHA:90321 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture |
ORPHA:2752 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Cog4-Cdg |
|
Failure to thrive in infancy, Hypercholesterolemia |
ORPHA:263501 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... |
ORPHA:3240 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Flexion contracture, Calcinosis, Reduced subcutaneous adipose ti... |
OMIM:248370 |
Noonan Syndrome 7 |
|
Curly hair, Low posterior hairline |
OMIM:613706 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Obesity, Hypercholesterolemia, Truncal obesity |
ORPHA:96184 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Nail dysplasia, Fine hair, Premature graying of hair |
OMIM:613990 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Sparse body hair, Sparse eyebrow, Brittle hair, Absent eyelashes, Absent nipple, Fine hair, Absen... |
OMIM:305100 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Conductive hearing impairment, EEG abnormality, Hypercholesterolemia, Obesi... |
ORPHA:819 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma... |
ORPHA:247585 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
Infantile Krabbe Disease |
|
Optic atrophy, Cachexia, Failure to thrive, Decreased nerve conduction velocity, Prolonged brains... |
ORPHA:206436 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Fine hair |
OMIM:614091 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
Ogden Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Flexion contracture, Sensorineural hearing impairment, Abnormality of somatosensory evoked potent... |
ORPHA:99027 |
Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Fair hair, Sparse facial hair, Fine hair, Sparse eyelashes, Sparse hair |
OMIM:250250 |
Argininosuccinic Aciduria |
|
Dry hair, Trichorrhexis nodosa, Brittle hair |
OMIM:207900 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... |
OMIM:238600 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Fine hair |
OMIM:614800 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Noonan Syndrome 4 |
|
High anterior hairline, Curly hair, Sparse eyebrow |
OMIM:610733 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol... |
ORPHA:412 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, Fl... |
ORPHA:101085 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair |
ORPHA:457485 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Sparse hair, Brittle hair |
OMIM:608612 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Failure to thrive, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:278000 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair |
OMIM:236200 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple, Fine hair |
ORPHA:1812 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
Noonan Syndrome 14 |
|
Sparse eyebrow, Curly hair, Sparse hair, Low posterior hairline |
OMIM:619745 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick eyebrow, Highly arched eyebrow, Curly hair, Low posterior hairline |
OMIM:617360 |
Frontonasal Dysplasia 2 |
|
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair |
OMIM:613451 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia |
ORPHA:401923 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Cranioectodermal Dysplasia 3 |
|
Broad nail, Sparse hair, Short nail, Fine hair |
OMIM:614099 |
Trisomy 10P |
|
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... |
ORPHA:171929 |
Cardiofaciocutaneous Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Brittle hair, Fine hair, Abnormal eyelash morphology, Low post... |
ORPHA:1340 |
Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hypercholesterolemia |
ORPHA:2479 |
Hallermann-Streiff Syndrome |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Abnormality of hair texture, Sparse... |
ORPHA:2108 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Fine hair |
OMIM:614438 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Optic atrophy, Small for gestational age, Abnormal auditory evo... |
OMIM:133540 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Low anterior hairline |
OMIM:618569 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
Cockayne Syndrome A |
|
Enamel hypoplasia, Sensorineural hearing impairment, Hip contracture, Optic atrophy, Abnormal aud... |
OMIM:216400 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture |
ORPHA:79351 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Premature graying of hair, Fine hair, Nail dysplasia, Sparse hair, Nail dystrophy |
OMIM:612199 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Spa... |
ORPHA:2710 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Trichorrhexis nodosa, Brittle hair, Fine hair, Woolly hair, Sparse hair |
OMIM:222470 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse eyelashes, Fine hair |
OMIM:257850 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Failure to thrive, Elevated 8-deh... |
ORPHA:401973 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:85201 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Fine hair, Brittle hair |
OMIM:618891 |
Koolen-De Vries Syndrome |
|
Fair hair, Abnormality of hair texture |
OMIM:610443 |
Trichothiodystrophy |
|
Aplasia/Hypoplasia of the nails, Tiger tail banding, Sparse scalp hair, Brittle hair, Split nail,... |
ORPHA:33364 |
2P15P16.1 Microdeletion Syndrome |
|
Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair |
ORPHA:261349 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Small for gestational age, Reduced subcutaneous adipose tissue, Decreased a... |
OMIM:606721 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Fine hair |
OMIM:616202 |
Megalocornea-Mental Retardation Syndrome |
|
Large fleshy ears, Cupped ear, Hypercholesterolemia |
OMIM:249310 |
Cardiofaciocutaneous Syndrome 1 |
|
Curly hair, Absent eyelashes, Absent eyebrow, Low posterior hairline, Sparse hair, Slow-growing hair |
OMIM:115150 |
Oculodentodigital Dysplasia |
|
Dry hair, Fine hair, Fragile nails, Sparse hair, Slow-growing hair |
OMIM:164200 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Syndromic Diarrhea |
|
Trichorrhexis nodosa, Brittle hair, Woolly hair, Hypopigmentation of hair, Uncombable hair |
ORPHA:84064 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:2637 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... |
OMIM:210250 |
Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Overweight, Hypercholesterolemia |
ORPHA:69663 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... |
ORPHA:909 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Fine hair |
ORPHA:251028 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Failure to thrive, Hypercholesterolemia, Hype... |
ORPHA:264580 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia, I... |
ORPHA:79240 |
Chand Syndrome |
|
Nail dysplasia, Curly hair |
ORPHA:1401 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:370 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Sparse hair |
OMIM:607721 |
Weaver Syndrome |
|
Fine hair, Sparse hair, Deep-set nails, Thin nail |
OMIM:277590 |
Ablepharon Macrostomia Syndrome |
|
Absent eyelashes, Fine hair, Absent eyebrow, Abnormal hair pattern, Sparse hair, Breast hypoplasia |
ORPHA:920 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hypoplastic nipples, Sparse hair, Fine hair |
OMIM:280000 |
Adrenomyeloneuropathy |
|
Frontal balding, Fine hair |
ORPHA:139399 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Fine hair, Onycholysis, Sparse eyelashes, Nail dystrophy |
OMIM:614748 |
Noonan Syndrome 2 |
|
Sparse eyebrow, Curly hair, Low posterior hairline |
OMIM:605275 |
Cerebellar-Facial-Dental Syndrome |
|
Sparse eyebrow, Sparse hair, Fine hair |
ORPHA:444072 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Sparse hair, Fine hair |
OMIM:241080 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Failure to thrive, Neonatal hyperbilirubinemia, Hyperch... |
ORPHA:90674 |
Nicolaides-Baraitser Syndrome |
|
Dry hair, Sparse scalp hair, Long eyelashes, Sparse medial eyebrow, Absent eyebrow, Low posterior... |
OMIM:601358 |
Noonan Syndrome 10 |
|
Sparse eyebrow, Curly hair |
OMIM:616564 |
Hallermann-Streiff Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Fine hair, Sparse eyelashes, Sparse hair |
OMIM:234100 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Opitz-Kaveggia Syndrome |
|
Frontal upsweep of hair, Sparse hair, Fine hair |
OMIM:305450 |
Dubowitz Syndrome |
|
Hypoplastic toenails, Sparse scalp hair, Sparse lateral eyebrow, Fine hair, Abnormal fingernail m... |
ORPHA:235 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
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Fine hair, Sparse hair, Highly arched eyebrow, Low posterior hairline |
OMIM:613563 |
Scalp-Ear-Nipple Syndrome |
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Sparse axillary hair, Breast aplasia, Fine hair, Sparse pubic hair, Nail dysplasia, Patchy alopec... |
OMIM:181270 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Lipoatrophy, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Bardet-Biedl Syndrome 20 |
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Papilledema, Obesity, Hypercholesterolemia |
OMIM:619471 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
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Synophrys, Abnormality of hair texture, Thick eyebrow, Hypoplastic sweat glands |
ORPHA:73223 |
Lysosomal Acid Lipase Deficiency |
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Hypercholesterolemia, Weight loss, Cachexia, Hyperkalemia, Steatorrhea, Failure to thrive, Xanthe... |
ORPHA:275761 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hypoplastic toenails, Curly hair, Synophrys, Long eyelashes, Abnormal fingernail morphology, Abno... |
ORPHA:444077 |
Lysinuric Protein Intolerance |
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Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Failure to thrive, Increased LD... |
ORPHA:470 |
Gaisböck Syndrome |
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Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Overweight, Hypercholeste... |
ORPHA:90041 |
Immunodeficiency 47 |
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Failure to thrive, Sensorineural hearing impairment, Decreased circulating copper concentration, ... |
OMIM:300972 |
Mucolipidosis Type Ii |
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Dry hair, White hair, Fine hair |
ORPHA:576 |
Lysinuric Protein Intolerance |
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Sparse hair, Fine hair |
OMIM:222700 |
Marshall-Smith Syndrome |
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Brittle hair, Synophrys, Highly arched eyebrow, Thick eyebrow, Sparse hair, Hypertrichosis |
OMIM:602535 |
Menkes Disease |
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Hypopigmentation of hair, Sparse hair, Woolly hair |
ORPHA:565 |
Cranioectodermal Dysplasia 1 |
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Short nail, Fine hair, Thin nail, Sparse hair, Slow-growing hair |
OMIM:218330 |
Orofaciodigital Syndrome I |
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Alopecia, Sparse hair, Dry hair |
OMIM:311200 |
Oculocerebrorenal Syndrome Of Lowe |
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Hypercholesterolemia, Hyperaldosteronism, EEG abnormality, Hypophosphatemia, Hypokalemia, Protrud... |
ORPHA:534 |
Mucolipidosis Ii Alpha/Beta |
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Sparse eyebrow, Sparse hair, Brittle hair |
OMIM:252500 |
Chime Syndrome |
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Sparse hair, Fine hair |
ORPHA:3474 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormality of hair texture |
ORPHA:667 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Enamel hypoplasia, Elevated maternal serum alpha-fetoprotein, Joint cont... |
OMIM:309000 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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High anterior hairline, Horizontal eyebrow, Curly hair, Sparse lateral eyebrow, Long eyelashes, T... |
OMIM:619950 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hyperuricemia, Failure to thrive, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyc... |
ORPHA:79259 |
Myhre Syndrome |
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Thick eyebrow, Sparse hair, Fine hair |
OMIM:139210 |
Costello Syndrome |
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Curly hair, Deep-set nails, Thin nail, Fragile nails, Concave nail, Sparse hair |
OMIM:218040 |
Distal Monosomy 12Q |
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Small nail, Fine hair |
ORPHA:96149 |
Cockayne Syndrome Type 3 |
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Dry hair, Premature graying of hair |
ORPHA:90324 |
Zttk Syndrome |
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Broad eyebrow, Curly hair, Sparse eyebrow |
OMIM:617140 |
Focal Dermal Hypoplasia |
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Brittle hair, Absent toenail, Absent fingernail, Supernumerary nipple, Ridged nail, Nail dysplasi... |
OMIM:305600 |
Coffin-Siris Syndrome 1 |
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Dry hair, Lumbosacral hirsutism, Sparse scalp hair, Long eyelashes, Facial hypertrichosis, Hypopl... |
OMIM:135900 |
Alagille Syndrome 1 |
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Macrotia, Failure to thrive, Hypercholesterolemia, Low-set ears, Hypertriglyceridemia |
OMIM:118450 |
Renpenning Syndrome 1 |
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Sparse lateral eyebrow, Sparse hair, Brittle hair |
OMIM:309500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Brittle hair |
OMIM:124000 |
Ogden Syndrome |
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Sparse eyebrow, Long eyelashes, Fine hair |
OMIM:300855 |
Cockayne Syndrome |
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Dry hair, Fine hair |
ORPHA:191 |
Neuroocular Syndrome |
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Small nail, Brittle hair, Synophrys, Long eyelashes, Distichiasis, Thick eyebrow, Highly arched e... |
OMIM:619539 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Sparse eyebrow, Sparse scalp hair, Fine hair, Sparse eyelashes, Sparse hair |
OMIM:210710 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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High anterior hairline, Horizontal eyebrow, Medial flaring of the eyebrow, Sparse scalp hair, Cur... |
OMIM:619503 |
Noonan Syndrome 1 |
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Woolly hair, Low posterior hairline |
OMIM:163950 |
Steinert Myotonic Dystrophy |
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Facial diplegia, Hypercholesterolemia |
ORPHA:273 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Elevated circulating creatinine concentration, Hyperbilirubinemia, Inguinal hernia, Failure to th... |
OMIM:619534 |
Witteveen-Kolk Syndrome |
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High anterior hairline, Medial flaring of the eyebrow, Fine hair, Hyperconvex nail, Fragile nails |
OMIM:613406 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Sparse eyebrow, Curly hair, Broad lateral eyebrow |
ORPHA:500150 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hyperlipidemia, Optic neuropathy, Hypercholesterolemia |
ORPHA:391665 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Hypoplastic nipples, Hypertrichosis, Curly hair |
ORPHA:480880 |
Liver Disease, Severe Congenital |
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Dry hair, Nail dystrophy |
OMIM:619991 |
Vascular Ehlers-Danlos Syndrome |
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Alopecia, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morpho... |
ORPHA:286 |
Alström Syndrome |
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Frontal balding, Hirsutism, Fine hair |
ORPHA:64 |