Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis |
ORPHA:505 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... |
ORPHA:2722 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
L-Ferritin Deficiency |
|
Decreased circulating ferritin concentration, Alopecia |
OMIM:615604 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... |
OMIM:617294 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair, Palmoplantar keratoderma |
OMIM:610476 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... |
ORPHA:248 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Carvajal Syndrome |
|
Woolly hair, Patchy palmoplantar hyperkeratosis |
ORPHA:65282 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... |
ORPHA:202 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... |
OMIM:616099 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti |
OMIM:607903 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia |
ORPHA:2574 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Follicular hyperkeratosis |
OMIM:618546 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Hypohidrosis, Dystrophic ... |
ORPHA:1882 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant... |
OMIM:194300 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Anhidrosis, Dystrophic toenail, Palmoplantar hyperkeratosis |
OMIM:619209 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... |
OMIM:129490 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
Naxos Disease |
|
Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Palmoplantar keratoder... |
ORPHA:34217 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of... |
ORPHA:90368 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... |
ORPHA:79397 |
Bjornstad Syndrome |
|
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int... |
OMIM:262000 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia |
OMIM:212360 |
Hawkinsinuria |
|
Sparse hair, Abnormal circulating tyrosine concentration, Hypothyroidism, Fine hair |
ORPHA:2118 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna... |
ORPHA:2251 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... |
OMIM:129500 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, ... |
ORPHA:3363 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Long eyebrows, Cryptorchidism, L... |
OMIM:275400 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Palmoplantar keratoderma, Nail dystroph... |
ORPHA:2890 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Hyperk... |
OMIM:602400 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Fine hair |
ORPHA:1174 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok... |
OMIM:614594 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... |
ORPHA:2228 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis |
OMIM:226650 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse eyebrow, H... |
OMIM:615704 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal toenail morphology, Abn... |
ORPHA:494 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Abnormali... |
ORPHA:317 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hype... |
ORPHA:79395 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair |
ORPHA:1883 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary |
OMIM:241090 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Palmoplantar keratoderma, Abnormality of the nail, Hypohidrosis |
ORPHA:79394 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:242300 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair, Palmoplantar keratoderma |
OMIM:611528 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Hypohidrosis, Hyperkeratosis, Palmopla... |
OMIM:242100 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... |
ORPHA:2309 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc, Alopecia |
OMIM:608118 |
Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... |
OMIM:619816 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Bazex-Dupre-Christol Syndrome |
|
Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Woolly hair... |
OMIM:615821 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar hyperkeratosi... |
OMIM:167210 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Thin nail, Sparse e... |
OMIM:257980 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Hypohidrosis, Nail dystrophy, Sparse hair |
ORPHA:100976 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis |
ORPHA:1366 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse... |
OMIM:604536 |
Dermatopathia Pigmentosa Reticularis |
|
Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis, Hypohidrosis |
OMIM:125595 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma,... |
OMIM:612843 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair |
OMIM:614940 |
Alpha-Heavy Chain Disease |
|
Alopecia, Hypocalcemia |
ORPHA:100025 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia |
OMIM:247100 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Hypohidrosis, Fine hair, Hyperkeratosis, On... |
ORPHA:1028 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
Lichen Planopilaris |
|
Hyperkeratosis, Alopecia, Onycholysis, Abnormal fingernail morphology |
ORPHA:525 |
Classic Mycosis Fungoides |
|
Hyperkeratosis, Alopecia, Abnormality of the nail |
ORPHA:2584 |
Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Decreased serum iron, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ... |
OMIM:234050 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
Copper Deficiency, Familial Benign |
|
Curly hair, Decreased circulating copper concentration, Early balding |
OMIM:121270 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Primary adrenal insufficiency, Graves disease, Hashimoto thyroiditis |
ORPHA:3143 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... |
OMIM:605676 |
Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena... |
ORPHA:3453 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Hi... |
OMIM:615830 |
Fg Syndrome 3 |
|
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... |
OMIM:607823 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent... |
OMIM:242150 |
Peeling Skin Syndrome 1 |
|
Palmoplantar hyperhidrosis, Brittle hair, Onycholysis, Nail dystrophy |
OMIM:270300 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair, Hyperhidrosis |
OMIM:615279 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia |
OMIM:618840 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hyperhidrosis, High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Elevated circulating phytanic acid concentration |
OMIM:215100 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Long eye... |
ORPHA:3051 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... |
OMIM:615280 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar keratoderma, Palmoplantar hype... |
ORPHA:659 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Generalized h... |
ORPHA:2221 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... |
ORPHA:2930 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... |
ORPHA:2269 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Central adrenal insufficiency, Alopecia, Small pituitary gland |
OMIM:612079 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis |
OMIM:609638 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair |
OMIM:616943 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h... |
ORPHA:75389 |
Satoyoshi Syndrome |
|
Alopecia, Mildly elevated creatine kinase, Alopecia universalis |
OMIM:600705 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration |
OMIM:309400 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair |
ORPHA:69735 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Atrichia, Nail dystrophy, Decreased t... |
ORPHA:1867 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... |
OMIM:300953 |
Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair |
ORPHA:1520 |
Weaver Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Cryptorchidism, ... |
ORPHA:3447 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Multinodular goiter, Palmoplantar keratoderma, Nail dystrophy, Alopecia of scalp |
OMIM:618373 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Hyperker... |
OMIM:610768 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... |
ORPHA:2963 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Hypohidrosis, Dystrophic... |
ORPHA:3253 |
Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Hypohidrosis, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1806 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia |
OMIM:164180 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Hypoplastic nipples, Abnormalit... |
ORPHA:978 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
Sulfite Oxidase Deficiency, Isolated |
|
Elevated circulating creatine kinase concentration, Fine hair |
OMIM:272300 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Orthokeratosis, Bile duct ... |
OMIM:607626 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
Leopard Syndrome 3 |
|
Hyperkeratosis, Curly hair, Epidermal hyperkeratosis, Low posterior hairline |
OMIM:613707 |
Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
Giant Axonal Neuropathy |
|
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi |
ORPHA:643 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Sparse hair |
ORPHA:2316 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
Acrogeria |
|
Fine hair |
ORPHA:2500 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia |
OMIM:616576 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Hyperkeratosis, Coarse hair, B... |
OMIM:308300 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia |
ORPHA:88630 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hypomagnesemia, Xerostomia, Hypokalemia, Hypocalcemia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Decreased testicular size, Thin eyebrow |
ORPHA:3242 |
Flynn-Aird Syndrome |
|
Alopecia, Primary adrenal insufficiency |
ORPHA:2047 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Netherton Syndrome |
|
Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Sparse eyebrow |
OMIM:256500 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
Sézary Syndrome |
|
Alopecia, Palmoplantar keratoderma, Nail dystrophy |
ORPHA:3162 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Decreased testicular size, Fine hair |
ORPHA:251019 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Slow-growing hair, Abnormal hair morphology, Cryptorchidism, Uncombable hair, Aplasia/Hypoplasia ... |
ORPHA:3082 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Hypohidrosis, Hyperkeratosis, Sparse hair, Abnormal toenail morphology |
ORPHA:1005 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,... |
ORPHA:3353 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair |
OMIM:616351 |
Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Sparse hair, Hyperch... |
ORPHA:2457 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Fine hair, Hyperkeratosis, Fragile nails, Nail dystrophy, Small nail... |
OMIM:601675 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Cryptorchidism, Multiple rows of eyelashes, Low posterior hairline, ... |
ORPHA:163654 |
Adrenoleukodystrophy |
|
Elevated circulating long chain fatty acid concentration, Alopecia, Primary adrenal insufficiency |
OMIM:300100 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e... |
OMIM:137940 |
Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairline, Sparse hair |
OMIM:613224 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Hyperkeratosis with erythema, Coarse hair |
OMIM:118650 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair, Hydrocele testis, Hypocholesterolemia |
OMIM:618810 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hyperammonemia |
ORPHA:79242 |
Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Cryptorchidism, Alopecia, Fine hair |
ORPHA:228390 |
Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, Sparse hair, Ch... |
OMIM:158310 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Trichorrhexis nodosa, Small nail, Pili torti, Fragile nails, Sparse lateral eyebrow |
OMIM:261990 |
Distal Duplication 6P |
|
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity |
ORPHA:1745 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Cryptorchidism, Hypothyroidism, Fine hair |
OMIM:616817 |
Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor... |
ORPHA:634 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Alopecia, Increased serum iron, Testicular atrophy |
OMIM:235200 |
Tonne-Kalscheuer Syndrome |
|
Concave nail, Cryptorchidism, Fine hair, Small nail, Decreased testicular size |
OMIM:300978 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia, Elevated circulating C-reactive protein concentration |
OMIM:615559 |
Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair, Increased circulating creatine kinase MB isoform |
OMIM:610193 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy |
ORPHA:90154 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
Monosomy 18P |
|
Alopecia, Hypothyroidism, Low posterior hairline |
ORPHA:1598 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair, Hyperlipidemia |
OMIM:608612 |
Hall-Riggs Syndrome |
|
Coarse hair, Slow-growing hair, Thick hair |
ORPHA:2107 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Cryptorchidism |
OMIM:616559 |
Noonan Syndrome 8 |
|
Hyperkeratosis, Cryptorchidism, Curly hair |
OMIM:615355 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary a... |
ORPHA:189427 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Anterior pituitary hypoplasia, Central hypothyroidism |
ORPHA:453533 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hyperthyroidism, Primary adrenal insufficiency, Steatorrhea, Hypothyroidism, Exocrine p... |
OMIM:269200 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Hyperconv... |
ORPHA:1071 |
Noonan Syndrome 5 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Fine hair, Small nail |
OMIM:611553 |
Bresek Syndrome |
|
Cryptorchidism, Alopecia, Decreased testicular size |
ORPHA:85284 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Decreased circulating aldosterone level, Primary adrenal insufficie... |
OMIM:240300 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Coarse hair, Brittle hair, Abnormality of hair texture |
OMIM:219200 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the... |
ORPHA:3130 |
Ane Syndrome |
|
Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, R... |
ORPHA:157954 |
Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Spar... |
ORPHA:217346 |
Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Concave nail, Abnormal hair morphology, Cryptorch... |
ORPHA:3071 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow |
OMIM:619244 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Breast aplasia |
ORPHA:90153 |
Omenn Syndrome |
|
Alopecia, Hypothyroidism, Thyroiditis, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Kury-Isidor Syndrome |
|
Alopecia, Hypertrichosis |
OMIM:619762 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent e... |
OMIM:305100 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test |
OMIM:601853 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Synophrys, Low anterior hairline, Fine hair, Sparse hair, Hypothyroidism |
ORPHA:391408 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... |
ORPHA:158687 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
Immunodeficiency, Common Variable, 10 |
|
Alopecia totalis, Trachyonychia, Central adrenal insufficiency, Decreased response to growth horm... |
OMIM:615577 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
Fetal Hydantoin Syndrome |
|
Cryptorchidism, Coarse hair, Hypoplastic fingernail, Low posterior hairline |
ORPHA:1912 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceridemia, Decreased response to gr... |
OMIM:203800 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Cryptorchidism, Patchy alopecia, Decreased testicular size |
ORPHA:85279 |
Johanson-Blizzard Syndrome |
|
Alopecia, Hypoproteinemia, Abnormal hair pattern, Exocrine pancreatic insufficiency |
ORPHA:2315 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Hypoargininemia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia into... |
OMIM:207900 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Fine hair |
OMIM:619428 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
X-Linked Agammaglobulinemia |
|
Alopecia, Hypocalcemia |
ORPHA:47 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Pancreatitis, Hypermethioninemia, Hyperhomocystinemia |
OMIM:236200 |
Noonan Syndrome 7 |
|
Hyperhidrosis, Curly hair, Low posterior hairline |
OMIM:613706 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Cryptorchidism, Fine hair, Premature graying of hair, Nail dysplasia |
OMIM:613990 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia |
OMIM:618282 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Tiger tail banding, Brittle hair, Trichorrhexis nodosa |
OMIM:616395 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Alopecia, Decreased circulating cortisol level, Alopecia totalis, Decreased respons... |
ORPHA:293978 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Hyperleucinemia, Hyperammonemia, Acute hyperammonemia |
OMIM:210210 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Supernumerary nipple, Cryptorchidism, Aplastic/hypoplastic toenail, Fine hair, Hypohidrosis, Hypo... |
ORPHA:1812 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Hypohidr... |
OMIM:613451 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc... |
ORPHA:2232 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Decreased circulating cortisol level, Testicular adrenal rest tumor, Polycystic ovaries... |
ORPHA:90795 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm... |
OMIM:106260 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hyperammonemia |
OMIM:253270 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Cryptorchidism, Small nail |
ORPHA:166035 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Broad n... |
ORPHA:464 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Bilateral cryptorchidism, Absent e... |
ORPHA:544488 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Hypothyroidism |
OMIM:304790 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperhidrosis, Sparse hair |
OMIM:619745 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Long eyelashes, Fine hair |
OMIM:620250 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of... |
ORPHA:37 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Hyperlipidemia, Fine hair, Sparse hair, Decreased testicular size |
OMIM:241080 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail |
OMIM:268130 |
Omenn Syndrome |
|
Hypoproteinemia, Alopecia, Hypoplasia of the thymus |
OMIM:603554 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration |
OMIM:222765 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H... |
ORPHA:363618 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Abnormal fingernail morphology |
ORPHA:1647 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Woolly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Increased s... |
OMIM:618268 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Curly hair |
OMIM:616638 |
Colchicine Poisoning |
|
Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc... |
ORPHA:31824 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairl... |
ORPHA:1340 |
Koolen-De Vries Syndrome |
|
Cryptorchidism, Hypopigmentation of hair, Hypothyroidism, Abnormality of hair texture |
ORPHA:96169 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Parakeratosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hyperkeratosis... |
OMIM:308050 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Hypocalcemia, Thyroiditis, Steatorrhea |
OMIM:212750 |
Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Sparse scalp hair, Alopecia, Hyperlipidemia, Hypercholesterolemia, Onychogryposis |
OMIM:248370 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail |
ORPHA:974 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Alopecia |
OMIM:163200 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Sparse h... |
ORPHA:2108 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair |
OMIM:127550 |
Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture |
ORPHA:2752 |
Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hypoalbumi... |
OMIM:617303 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, ... |
ORPHA:1775 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Abnorm... |
ORPHA:428 |
Mogs-Cdg |
|
Alopecia, Hydrocele testis, Long eyelashes, Fair hair, Hypothyroidism, Hirsutism |
ORPHA:79330 |
Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow |
ORPHA:1394 |
Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
Eec Syndrome |
|
Slow-growing hair, Decreased response to growth hormone stimulation test, Sparse eyebrow, Xerosto... |
ORPHA:1896 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair |
OMIM:614091 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Fine hair, Increased serum iron, Hypoalbuminemia, Abnormality of iron h... |
OMIM:222470 |
Dyskeratosis Congenita, Digenic |
|
Nail dystrophy, Alopecia, Sparse eyelashes, Decreased testicular size |
OMIM:620040 |
Ogden Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
Macs Syndrome |
|
Sparse hair, Cryptorchidism, Alopecia, Sparse eyebrow |
OMIM:613075 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Alopecia totalis, Elevated circulating creatine kinase concentration |
OMIM:618775 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Secondary hyperparathyroidism, Alopecia universalis, Hypophosphatemia |
OMIM:277440 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia |
ORPHA:169154 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypoglycinemia, Hyposerinemia, Abnormality of hair texture |
ORPHA:79351 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia, Hypothyroidism |
OMIM:617763 |
Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Coarse hair, Abnormal hair pattern |
ORPHA:1786 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Curly hair |
ORPHA:457485 |
Biotinidase Deficiency |
|
Alopecia, Hyperammonemia |
OMIM:253260 |
Gapo Syndrome |
|
Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes |
ORPHA:2067 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Decreased testicular size, Hypertric... |
ORPHA:168569 |
Chops Syndrome |
|
Curly hair, Thick hair, Cryptorchidism, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow |
OMIM:616368 |
Noonan Syndrome 4 |
|
Sparse eyebrow, Cryptorchidism, High anterior hairline, Curly hair |
OMIM:610733 |
Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Coarse hair |
OMIM:605309 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
Ritscher-Schinzel Syndrome 4 |
|
Cryptorchidism, Curly hair |
OMIM:619435 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasi... |
ORPHA:69085 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Hypohidrosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Sparse hair, A... |
ORPHA:158668 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... |
OMIM:268400 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline |
OMIM:617360 |
Multiple Sulfatase Deficiency |
|
Coarse hair, Thick eyebrow |
ORPHA:585 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Enlarged ovaries, Abnormal circulating lipid concentration, Enlarged polycystic ovaries... |
ORPHA:2298 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Hyperhid... |
OMIM:115150 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism, Dry hair, Low anterior hairline |
OMIM:618569 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Hypothyroidism, Thyroiditis, Alopecia universalis |
OMIM:606367 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... |
OMIM:230740 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Fine hair |
OMIM:614800 |
Adrenomyeloneuropathy |
|
Frontal balding, Abnormal circulating fatty-acid concentration, Primary adrenal insufficiency, Ad... |
ORPHA:139399 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Cryptorchidism, Fine hair |
OMIM:614438 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Abnormal circulating apolipoprotein concentration, Coarse hair, Thick hair |
ORPHA:357074 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Palmoplan... |
ORPHA:2710 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Elevated circulating uroporphyrin concentration, Cho... |
OMIM:263700 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Alopecia, Low posterior hairline |
ORPHA:2959 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Hyperthyroidism, Abnormal blood ion concentration, Thyroiditis, Hypoalbuminemia, Hypoca... |
ORPHA:37042 |
Immunodeficiency 7 |
|
Patchy alopecia |
OMIM:615387 |
Trisomy 20P |
|
Thick hair, Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Low posterior hairline,... |
ORPHA:261318 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Palmoplantar keratoderma, Hypoalbuminemia, Nail dystrophy, Onychogryposis |
ORPHA:79396 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nai... |
ORPHA:2909 |
Mixed Connective Tissue Disease |
|
Alopecia, Xerostomia |
ORPHA:809 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
Cranioectodermal Dysplasia 3 |
|
Sparse hair, Broad nail, Short nail, Fine hair |
OMIM:614099 |
Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
Giant Cell Arteritis |
|
Alopecia, Hyperhidrosis |
ORPHA:397 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Alopecia |
OMIM:613001 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Cryptorchidism, Hyperkeratosis, Loose anagen hair, Long eyelashes,... |
OMIM:607721 |
Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Cryptorchidism, Widow's peak, Low posterior hairline, Unilat... |
OMIM:304110 |
Diamond-Blackfan Anemia 21 |
|
Synophrys, Coarse hair, Horizontal eyebrow, Widow's peak |
OMIM:620072 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Hypoplasia of the thymus, Abnormality of iron homeostasis... |
ORPHA:84064 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Hy... |
ORPHA:3464 |
Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Coarse hair, Fine hair |
OMIM:242900 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:612199 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:93552 |
Leprosy |
|
Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Hypohidrosis, Hyperkeratosis, Spars... |
ORPHA:548 |
Koolen-De Vries Syndrome |
|
Cryptorchidism, Fair hair, Abnormality of hair texture |
OMIM:610443 |
Genitopatellar Syndrome |
|
Cryptorchidism, Sparse scalp hair, Fine hair |
ORPHA:85201 |
Noonan Syndrome 10 |
|
Sparse eyebrow, Cryptorchidism, Hyperkeratosis, Curly hair |
OMIM:616564 |
2P15P16.1 Microdeletion Syndrome |
|
Supernumerary nipple, Sparse eyebrow, Fine hair, Long eyelashes, Decreased testicular size |
ORPHA:261349 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Coarse hair, Nail dysplasia |
OMIM:612394 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
Noonan Syndrome 2 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperkeratosis |
OMIM:605275 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Fine hair |
OMIM:618891 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Coa... |
OMIM:617506 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy |
OMIM:614008 |
Biotinidase Deficiency |
|
Alopecia, Hyperammonemia |
ORPHA:79241 |
Mucopolysaccharidosis, Type Iiid |
|
Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow |
OMIM:252940 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Increased circulating ferritin concentration, Hyperammonemia, Fine hair, Sparse ha... |
OMIM:222700 |
Juvenile Dermatomyositis |
|
Calcinosis, Alopecia, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:93672 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Cryptorchidism, Tiger tai... |
ORPHA:33364 |
Leigh Syndrome |
|
Alopecia, Hyperalaninemia, Frontal hirsutism, Hypertrichosis |
ORPHA:506 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Plantar hyperkeratosis, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes,... |
ORPHA:221008 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Patch... |
OMIM:302960 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis, Patchy alopecia, Breast aplasia... |
OMIM:181270 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Cryptorchidism, Decreased testicular size, Fine hair |
ORPHA:251028 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Fine hair |
OMIM:616202 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insufficiency, Anterior pitu... |
ORPHA:227982 |
Chand Syndrome |
|
Curly hair, Nail dysplasia, Hypohidrosis |
ORPHA:1401 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Cryptorchidism, Coarse hair, Brittle hair |
OMIM:607812 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Adenoma sebaceum |
ORPHA:2612 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cryptorchidism, Alopecia, Hypertriglyceridemia |
ORPHA:536532 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair |
OMIM:277590 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Primary adrenal insufficiency, Xerostomia, Anterior pituitary dysgenesis, Graves diseas... |
ORPHA:227990 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
Systemic Sclerosis |
|
Alopecia, Nail bed telangiectasia, Elevated circulating creatine kinase concentration, Hypohidrosis |
ORPHA:90291 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Hypertriglyceridemia, Abnormal hair morphology, Abnormal hair w... |
ORPHA:79474 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Pancreatic cysts, Coarse hair, Sparse hair, Exocrine pancreatic insuffici... |
ORPHA:2750 |
Mucopolysaccharidosis, Type Vii |
|
Coarse hair, Thick eyebrow, Hirsutism |
OMIM:253220 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia |
ORPHA:920 |
Phakomatosis Pigmentokeratotica |
|
Cryptorchidism, Hyperhidrosis, Patchy alopecia, Pheochromocytoma, Hypophosphatemic rickets |
ORPHA:2874 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Orthokeratotic hyperkeratosis, ... |
ORPHA:73223 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:2637 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, Absent eyelashes, Cryptorc... |
OMIM:308205 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair |
OMIM:234100 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Coarse hair |
OMIM:130720 |
Cerebellar-Facial-Dental Syndrome |
|
Sparse hair, Cryptorchidism, Sparse eyebrow, Fine hair |
ORPHA:444072 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Cryptorchidism, Low anterior hairline, Low posterior... |
OMIM:601358 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy, Hypo... |
OMIM:614748 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Cryptorchidism, Pterygium of nails, Hyperhid... |
OMIM:305000 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Plantar hyperkeratosis, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes,... |
ORPHA:221016 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Bilateral cryptorchidism, Absent e... |
OMIM:263650 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Cryptorchidism, Abnormal ... |
ORPHA:2273 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Cryp... |
ORPHA:235 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Sparse hair |
OMIM:311200 |
Opitz-Kaveggia Syndrome |
|
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair |
OMIM:305450 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Highly arched eyebrow, Cryptorchidism, Fine hair, Low posterior hairline, Sparse hair |
OMIM:613563 |
Chime Syndrome |
|
Sparse hair, Hyperkeratosis, Fine hair |
ORPHA:3474 |
Xeroderma Pigmentosum |
|
Hyperkeratosis, Cryptorchidism, Alopecia, Decreased testicular size |
ORPHA:910 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Abnormal fingernail morphology, Thick hair, Decreased response to growth hormone stim... |
ORPHA:444077 |
Focal Dermal Hypoplasia |
|
Alopecia, Abnormality of the nail |
ORPHA:2092 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia, Abnormality of hair texture |
ORPHA:667 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Patchy alopecia, Cholelithiasis, Decreased testicular size, Thick eyebrow |
OMIM:300534 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hydrocele testis, Hypoplastic nipp... |
OMIM:280000 |
Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Thin nail, Short nail, Fine hair, Hypocalcemia, Sparse hair |
OMIM:218330 |
Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Sparse ... |
OMIM:602535 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Azotemia, Alopecia, Hypoplasia of the ovary, Decreased testicular size |
OMIM:619321 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Decreased response to growth hormone stimulation test, Testicular neoplasm, Cryptorchid... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Testicular neoplasm, Cryptorchid... |
ORPHA:363958 |
Sympathetic Ophthalmia |
|
Alopecia, Poliosis |
ORPHA:79098 |
Occipital Horn Syndrome |
|
Coarse hair, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... |
OMIM:304150 |
Mucopolysaccharidosis Type 3 |
|
Thick hair, Synophrys, Coarse hair, Generalized hirsutism, Hirsutism |
ORPHA:581 |
Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Increased serum beta-hexosaminidase, Brittle hair, Sparse hair |
OMIM:252500 |
Noonan Syndrome |
|
Abnormal hair quantity, Cryptorchidism, Coarse hair, Low posterior hairline |
ORPHA:648 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia |
ORPHA:2396 |
Mucolipidosis Type Ii |
|
Dry hair, White hair, Fine hair |
ORPHA:576 |
Cockayne Syndrome B |
|
Anhidrosis, Dry hair, Abnormal hair morphology, Cryptorchidism, Sparse hair |
OMIM:133540 |
Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
Autosomal Recessive Robinow Syndrome |
|
Cryptorchidism, Alopecia, Long eyelashes, Fingernail dysplasia |
ORPHA:1507 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Curly eyelashes, Cryptorchidism, Long eyelashes, Fingernail dysplasia, Ridged fingernai... |
ORPHA:3107 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Paronychia, Abnormal blood ion concentration, Nail dystrophy, Anonychia, Abnormality of... |
ORPHA:79404 |
Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Synophrys, Low anterior hairline, Coarse hair, Generalized hirsut... |
ORPHA:955 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Hypertriglyceridemia, Absent eyela... |
OMIM:264090 |
Steinert Myotonic Dystrophy |
|
Alopecia, Hypercholesterolemia, Decreased response to growth hormone stimulation test, Abnormalit... |
ORPHA:273 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Sparse scalp hair, Hyperparathyroidism, Hypoammonemia, Cryptorchidism, Fine hair, H... |
ORPHA:534 |
Cockayne Syndrome A |
|
Sparse hair, Cryptorchidism, Dry hair, Anhidrosis |
OMIM:216400 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Small nail, Supernumerary nipple |
OMIM:100300 |
Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Absent nipple, Cryptorchidism, Synophrys, Low anterior hairline, Low posterior... |
OMIM:612289 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Patchy alopecia, Hashimoto thyroiditis |
ORPHA:90289 |
Behcet Syndrome |
|
Patchy alopecia |
OMIM:109650 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, Macroorchidism, High anter... |
OMIM:619950 |
Ring Chromosome 13 Syndrome |
|
Alopecia, Hypoplasia of the gallbladder, Primary hypothyroidism |
ORPHA:96176 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Biliary hyperplasia, Cryptorchidism, Coarse hair, Cholelithiasis, Pancreatic hypop... |
ORPHA:83617 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Pituitary adenoma, Fine hair, Small nail, Annular pancreas |
ORPHA:96149 |
Melnick-Needles Syndrome |
|
Coarse hair, Frontal hirsutism |
OMIM:309350 |
Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:536 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Hyperkeratosis, H... |
OMIM:210710 |
Myhre Syndrome |
|
Sparse hair, Cryptorchidism, Thick eyebrow, Fine hair |
OMIM:139210 |
Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Alopecia, Elevated circulating C-reactive protein concentration |
ORPHA:50918 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair |
ORPHA:2636 |
Relapsing Polychondritis |
|
Alopecia |
ORPHA:728 |
Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Cryptorchidism, Patchy alopecia, Nail dystrophy,... |
OMIM:305600 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Biliary hyperplasia... |
OMIM:619991 |
Cockayne Syndrome |
|
Anhidrosis, Dry hair, Cryptorchidism, Fine hair, Hyperuricemia |
ORPHA:191 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails |
OMIM:218040 |
Cockayne Syndrome Type 3 |
|
Premature graying of hair, Dry hair |
ORPHA:90324 |
Ogden Syndrome |
|
Sparse eyebrow, Cryptorchidism, Fine hair, Hydrocele testis, Long eyelashes, Hyperbilirubinemia, ... |
OMIM:300855 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Cryptorchidism, Hypoplastic fifth fingernail, Lumbosacral hirsutism,... |
OMIM:135900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Brittle hair |
OMIM:124000 |
Zttk Syndrome |
|
Sparse eyebrow, Absent gallbladder, Curly hair, Broad eyebrow |
OMIM:617140 |
Renpenning Syndrome 1 |
|
Sparse hair, Brittle hair, Decreased testicular size, Sparse lateral eyebrow |
OMIM:309500 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Decreased response t... |
OMIM:619503 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Abnormal fingernail morphology, Hashimoto thyroiditis, Hypoplastic toenails, Increased ... |
ORPHA:99413 |
Turner Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hashimoto thyroiditis, Hypoplastic toenails, Increased ... |
ORPHA:881 |
Mosaic Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Hashimoto thyroiditis, Hypoplastic toenails, Increased ... |
ORPHA:99228 |
Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Hashimoto thyroiditis, Hypoplastic toenails, Increased ... |
ORPHA:99226 |
Occipital Horn Syndrome |
|
Coarse hair, Thick hair |
ORPHA:198 |
Chronic Graft Versus Host Disease |
|
Xerostomia, Alopecia, Onycholysis, Nail dystrophy |
ORPHA:99921 |
Sarcoidosis |
|
Alopecia, Hyperthyroidism, Hypercalcemia, Enlarged lacrimal glands, Enlargement of parotid gland,... |
ORPHA:797 |
Coffin-Lowry Syndrome |
|
Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow |
OMIM:303600 |
Neuroocular Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e... |
OMIM:619539 |
African Trypanosomiasis |
|
Abnormal prolactin level, Alopecia, Abnormality of circulating cortisol level |
ORPHA:3385 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Cyst of the ductus choledochus, Abnormal circulating thyroid hormone concentration, H... |
ORPHA:480880 |
Noonan Syndrome 1 |
|
Woolly hair, Cryptorchidism, Low posterior hairline |
OMIM:163950 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Loss of eyelashes, Patchy alopecia, Dystrophic fingernails, Dys... |
ORPHA:740 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Unilateral cryptorchidism, Decreased response to growth hormone st... |
OMIM:613406 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidism, Hypokalemia, ... |
ORPHA:286 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sparse eyebrow, Absent gallbladder, Curly hair, Broad lateral eyebrow |
ORPHA:500150 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Hypothyroidism, Hirsutism |
OMIM:619472 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Anhidrosis, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, ... |
OMIM:601803 |
Alström Syndrome |
|
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Frontal balding, Tes... |
ORPHA:64 |