Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis |
ORPHA:505 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair, Ichthyosis |
ORPHA:91132 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair, Growth delay |
OMIM:246500 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism, Delayed puberty |
ORPHA:2297 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... |
ORPHA:2722 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
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 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... |
OMIM:617294 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Parana Hard Skin Syndrome |
|
Short stature, Thickened skin, Growth delay, Hyperkeratosis, Generalized hirsutism |
ORPHA:2812 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis |
OMIM:101900 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Anonychia With Flexural Pigmentation |
|
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia |
ORPHA:69125 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia, Short stature |
ORPHA:2574 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
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 |
Thumb Deformity And Alopecia |
|
Alopecia, Short stature |
OMIM:188150 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Acrokeratosis, Sparse eyebrow |
OMIM:620199 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis |
ORPHA:79503 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia, Sc... |
OMIM:212360 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti |
OMIM:607903 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp... |
ORPHA:79395 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... |
OMIM:616099 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Spars... |
OMIM:618625 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onyc... |
ORPHA:2251 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Alopecia, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Spar... |
OMIM:242300 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of... |
ORPHA:90368 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... |
ORPHA:79397 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis |
ORPHA:737 |
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 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Short stature, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp... |
ORPHA:2200 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula... |
OMIM:613102 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Patchy alopecia |
OMIM:247100 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Ichthyosis |
OMIM:242510 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor... |
OMIM:613576 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Generalized keratosis follicularis, Pal... |
ORPHA:2890 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Scleroderma, Alopecia, Onycholysis |
OMIM:176100 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop... |
OMIM:614594 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Abnorma... |
ORPHA:89838 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Short stature, Widow's peak, Sparse hair, Intrauterine growth retardation, Thick eyebrow |
OMIM:606242 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... |
ORPHA:494 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... |
OMIM:129500 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... |
OMIM:148700 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Growth delay, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sp... |
ORPHA:79402 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding |
OMIM:619692 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Cong... |
OMIM:602400 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital... |
OMIM:607602 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h... |
ORPHA:2199 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Palmoplantar keratoderma, Hypertrichosis |
OMIM:617524 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Severe short stature, Long eyebrows, Long eyelashes, Delayed puberty, Sparse hair |
OMIM:275400 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Growth delay, Ichthyosis, Sparse body hair, Aplasia/H... |
ORPHA:2850 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Short stature, Hyperkeratosis, Coarse hair, Sparse hair |
ORPHA:1883 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair, Alope... |
OMIM:604536 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Alopecia, Thickened skin, Palmoplantar hyperkeratosis, Nail dystrophy, Congenital ... |
ORPHA:100976 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis |
ORPHA:79399 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Growth delay, Hyperkeratosis, Con... |
OMIM:242100 |
Erythrokeratodermia Variabilis |
|
Alopecia, Short stature, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalize... |
ORPHA:317 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Palmoplantar keratoderma, Sparse hair, Sp... |
OMIM:618535 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dy... |
ORPHA:1882 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Short stature, Palmoplantar keratoderma, Ichthyosis, Abnormality of the nail |
ORPHA:79394 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis,... |
OMIM:615821 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Sparse hair |
ORPHA:2985 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
ORPHA:79151 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Pachyonychia Congenita 1 |
|
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Syndromic X-Linked Intellectual Disability 7 |
|
Short stature, Sparse body hair |
ORPHA:85274 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Alopecia Antibody Deficiency |
|
Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of ... |
ORPHA:1006 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Short stature, Growth delay, Ichthyosis, Sparse body hair |
ORPHA:177 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Growth delay, Long eyelashes |
ORPHA:3363 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis |
ORPHA:1366 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Severe postnatal growth retardation, Alopecia, Severe short stature |
OMIM:203550 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow |
ORPHA:3406 |
Trichothiodystrophy 2, Photosensitive |
|
Short stature, Coarse hair, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Tiger t... |
OMIM:616390 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Short stature |
OMIM:619985 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Intrauterine growth retardation, Severe short stature |
OMIM:618724 |
Lichen Planopilaris |
|
Hyperkeratosis, Alopecia, Onycholysis, Abnormal fingernail morphology |
ORPHA:525 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, Acan... |
ORPHA:59303 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617571 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Bazex Syndrome |
|
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Acanthosis... |
ORPHA:166113 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma,... |
OMIM:612843 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... |
ORPHA:2309 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant... |
OMIM:194300 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Congenital Short Bowel Syndrome |
|
Sparse hair, Short stature |
ORPHA:2301 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Xq27.3Q28 Duplication Syndrome |
|
Intrauterine growth retardation, Short stature, Sparse body hair |
ORPHA:261483 |
Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... |
OMIM:619816 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Ichthyosis |
OMIM:618840 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Nail dysplasia, Delayed puberty |
OMIM:615704 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized ichthyosis, Absent ax... |
ORPHA:2269 |
Darier Disease |
|
Acrokeratosis, Abnormal hair morphology, Thickened skin, Palmoplantar keratoderma, Abnormality of... |
ORPHA:218 |
Lamellar Ichthyosis |
|
Short stature, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormality of the nail, Aplasia/Hypoplas... |
ORPHA:313 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis |
OMIM:613943 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Short stature, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia |
OMIM:616029 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy |
ORPHA:89843 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Classic Mycosis Fungoides |
|
Hyperkeratosis, Alopecia, Abnormality of the nail |
ORPHA:2584 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Hyperkeratosis with erythema, Coarse hair, Moderate postnatal growth retardation |
OMIM:118650 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Dermatopathia Pigmentosa Reticularis |
|
Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis |
OMIM:125595 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Aquagenic Palmoplantar Keratoderma |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma |
ORPHA:498359 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... |
OMIM:605676 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, O... |
OMIM:617337 |
Ramon Syndrome |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:3019 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair, Short stature |
OMIM:618681 |
Ichthyosis Prematurity Syndrome |
|
Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis |
OMIM:608649 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Toenail dysplasia |
OMIM:615907 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Severe short stature, Rhizomelia, Ichthyosis |
OMIM:215100 |
Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Palmoplantar hyperkeratosis, Sparse hair, Nail dystrophy, A... |
ORPHA:140936 |
Alpha-Heavy Chain Disease |
|
Growth delay, Alopecia |
ORPHA:100025 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Short stature, Palmoplantar keratoderma, Ichthyosis, Sparse hair, Fragile nails |
OMIM:242150 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Short stature, Low posterior hairline |
ORPHA:2183 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Moderate postnatal growth retardation, Hyperkeratosis, Ichthyosis... |
ORPHA:1005 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Intrauterine growth retardation, Alopecia, Brittle hair, Short stature |
ORPHA:50812 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis |
OMIM:609638 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dyst... |
OMIM:308800 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair, Ichthyosis, O... |
OMIM:607626 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Hypergranulosis, Sho... |
OMIM:257980 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Leopard Syndrome 3 |
|
Curly hair, Short stature, Epidermal hyperkeratosis, Low posterior hairline, Growth delay, Hyperk... |
OMIM:613707 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:133200 |
Acquired Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
ORPHA:454 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis |
ORPHA:1028 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma |
ORPHA:312 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair, Short stature |
OMIM:615279 |
Filippi Syndrome |
|
Postnatal growth retardation, Sparse hair, Intrauterine growth retardation, Frontal hirsutism, Hy... |
OMIM:272440 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Short stature, Growth delay, Nail dystrophy, Atrichia |
ORPHA:1867 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia of scalp, Alopecia, Palmoplantar keratoderma, Nail dystrophy |
OMIM:618373 |
Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair |
ORPHA:1660 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair |
ORPHA:1810 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypergranulosis, Acantholysis, Growth delay, Palmoplantar keratoderma, Sparse hair, Ichthyosis, O... |
OMIM:615508 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Intrauterine growth retardation, Alopecia, Nail dystrophy |
OMIM:616353 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Short stature, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1806 |
Ifap Syndrome 2 |
|
Ichthyosis follicularis, Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Thickened skin, Palmoplantar keratoderma, Sparse hair |
ORPHA:659 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:620148 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:461 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Severe short stature, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Lo... |
ORPHA:3051 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
Hypotrichosis 3 |
|
Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor... |
OMIM:613981 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Short stature, Delayed puberty |
OMIM:612079 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Short stature, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in... |
ORPHA:2963 |
Satoyoshi Syndrome |
|
Alopecia, Short stature, Alopecia universalis |
OMIM:600705 |
Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation |
OMIM:309400 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... |
ORPHA:2930 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma |
OMIM:146590 |
Lipoid Proteinosis |
|
Hyperkeratosis, Thickened skin, Alopecia of scalp |
ORPHA:530 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa, Intrauterine growt... |
OMIM:614602 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis, Ichthyosis |
OMIM:610768 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Short stature, Coarse hair, Nail dystrophy, Intrauterine growth retardation |
ORPHA:75389 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Fol... |
OMIM:616295 |
Lichen Planus Pemphigoides |
|
Hyperkeratosis, Abnormality of the nail |
ORPHA:254478 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Growth delay, Nail dys... |
OMIM:234050 |
Anauxetic Dysplasia 2 |
|
Short stature, Nail dysplasia, Small nail, Sparse hair, Intrauterine growth retardation |
OMIM:617396 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Short stature, Palmoplantar hyperkeratosis, Sparse ... |
OMIM:615280 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Short stature, Fine hair, Hyperkeratosis, Fragile nails, Nail dystro... |
OMIM:601675 |
Chanarin-Dorfman Syndrome |
|
Alopecia, Congenital nonbullous ichthyosiform erythroderma |
OMIM:275630 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Short stature, Sparse eyebrow |
OMIM:619989 |
Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Sparse eyebrow, Palmoplantar hyperkeratosi... |
OMIM:167210 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair |
ORPHA:2611 |
Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Thickened skin, Palmoplantar keratoderma, Ichthyosis, Abnormality of th... |
ORPHA:2897 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Acanthosis nigricans, Short stature, Sparse hair |
OMIM:268020 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis |
OMIM:615023 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Short stature, Sparse eyebrow, Reduced hair sulfur content, Spar... |
OMIM:300953 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Short stature, Postnatal growth retardation, Synophrys, Sparse hair, Thick eyebrow |
OMIM:611091 |
Bresek Syndrome |
|
Growth delay, Intrauterine growth retardation, Alopecia, Ichthyosis |
ORPHA:85284 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Hyperkeratosis, Hypertrichosis, Ichthyosis |
OMIM:612379 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... |
ORPHA:1807 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Donohue Syndrome |
|
Postnatal growth retardation, Hyperkeratosis, Nail dysplasia, Acanthosis nigricans, Intrauterine ... |
OMIM:246200 |
Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Short stature, Ichthyosis |
ORPHA:816 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair |
OMIM:273390 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse pubic hair, Sparse axillary hair |
OMIM:146110 |
Rodrigues Blindness |
|
Sparse hair, Short stature, Fine hair |
OMIM:268320 |
Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Pachyonychia Congenita 3 |
|
Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail dystrophy, Fol... |
OMIM:615726 |
Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis |
ORPHA:158681 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail... |
ORPHA:3253 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Short stature |
ORPHA:88630 |
Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Trichorrhexis n... |
ORPHA:1010 |
Sézary Syndrome |
|
Alopecia, Palmoplantar keratoderma, Nail dystrophy |
ORPHA:3162 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism |
ORPHA:79431 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Hyperkeratosis, Ichthyosis, Nail... |
OMIM:148210 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... |
OMIM:606545 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis |
OMIM:602723 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Short stature, Supernumerary nipple, Nail pits, Fine hair, Hyperkeratosis,... |
OMIM:308300 |
Oligodontia-Colorectal Cancer Syndrome |
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Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Netherton Syndrome |
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Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Sparse eyebrow, Congenital no... |
OMIM:256500 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e... |
OMIM:137940 |
Blepharocheilodontic Syndrome 1 |
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Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
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Sparse hair, Intrauterine growth retardation, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Lethal Acantholytic Erosive Disorder |
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Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... |
ORPHA:158687 |
Renpenning Syndrome |
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Abnormal hairshaft morphology, Alopecia, Severe short stature, Growth delay, Thin eyebrow |
ORPHA:3242 |
Rapp-Hodgkin Syndrome |
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Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Fine ha... |
OMIM:129400 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
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Intrauterine growth retardation, Short stature, Sparse body hair |
OMIM:300869 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Intrauterine growth retardation, Short stature, Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
Cardiocranial Syndrome, Pfeiffer Type |
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Short stature, Abnormal hair whorl, Growth delay, Sparse hair, Intrauterine growth retardation |
ORPHA:2872 |
Mednik Syndrome |
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Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Systemic Lupus Erythematosus 17 |
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Alopecia |
OMIM:301080 |
Desbuquois Syndrome |
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Sparse hair, Severe short stature, Disproportionate short-limb short stature, Abnormal eyelash mo... |
ORPHA:1425 |
Trichothiodystrophy 8, Nonphotosensitive |
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Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
Hemifacial Atrophy, Progressive |
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Patchy alopecia, Poliosis |
OMIM:141300 |
Palmoplantar Carcinoma, Multiple Self-Healing |
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Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis |
OMIM:615225 |
Johnson Neuroectodermal Syndrome |
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Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Sparse hair |
ORPHA:2316 |
Neuropathy, Hereditary Sensory, Type If |
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Hyperkeratosis |
OMIM:615632 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
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Parakeratosis |
OMIM:618531 |
Vulvovaginal Gingival Syndrome |
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Ridged nail, Parakeratosis |
ORPHA:83453 |
Noonan Syndrome 8 |
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Hyperkeratosis, Curly hair, Short stature |
OMIM:615355 |
Hutchinson-Gilford Progeria Syndrome |
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Growth delay, Alopecia |
OMIM:176670 |
Mucoepithelial Dysplasia, Hereditary |
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Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, Sparse hair, Ch... |
OMIM:158310 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
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Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... |
OMIM:604777 |
Oculocerebrocutaneous Syndrome |
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Alopecia |
OMIM:164180 |
2Q32Q33 Microdeletion Syndrome |
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Sparse hair, Growth delay, Short stature, Fine hair |
ORPHA:251019 |
Costello Syndrome |
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Deep-set nails, Abnormal fingernail morphology, Short stature, Concave nail, Hypoplastic toenails... |
ORPHA:3071 |
Irida Syndrome |
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Hyperkeratosis, Ichthyosis |
ORPHA:209981 |
Syndromic Recessive X-Linked Ichthyosis |
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Hyperkeratosis, Short stature, Ichthyosis |
ORPHA:281090 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
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Alopecia |
OMIM:616576 |
Mandibuloacral Dysplasia |
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Alopecia, Postnatal growth retardation, Sparse hair, Acanthosis nigricans, Hypoplastic fingernail |
ORPHA:2457 |
White Sponge Nevus 2 |
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Hyperparakeratosis |
OMIM:615785 |
Acrofacial Dysostosis, Palagonia Type |
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Sparse eyelashes, Short stature, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sp... |
ORPHA:1787 |
Hypohidrotic Ectodermal Dysplasia |
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Abnormal hair quantity, Slow-growing hair, Hyperkeratosis, Aplasia/Hypoplasia of the eyebrow, Bre... |
ORPHA:238468 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... |
OMIM:614941 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair, Intrauterine growth retardation, Growth delay |
OMIM:610756 |
Even-Plus Syndrome |
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Sparse hair, Synophrys, Severe short stature, Highly arched eyebrow |
OMIM:616854 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
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Follicular hyperkeratosis |
OMIM:613736 |
Noonan Syndrome 6 |
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Curly hair, Short stature, Long eyebrows, Low posterior hairline, Growth delay, Sparse hair |
OMIM:613224 |
Bleeding Disorder, Platelet-Type, 21 |
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Alopecia |
OMIM:617443 |
Cranioectodermal Dysplasia |
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Sparse hair, Rhizomelia, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia |
ORPHA:3143 |
Prolidase Deficiency |
|
Abnormal fingernail morphology, Low anterior hairline, Hyperkeratosis, Palmoplantar keratoderma, ... |
ORPHA:742 |
Poikiloderma With Neutropenia |
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Plantar hyperkeratosis, Short stature, Sparse eyebrow, Low posterior hairline, Growth delay, Hype... |
OMIM:604173 |
Tooth Agenesis, Selective, 4 |
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Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmar hyperkeratosis, Dystrophic fingernails... |
OMIM:150400 |
Androgen Insensitivity Syndrome |
|
Sparse pubic hair, Absent facial hair, Sparse axillary hair |
OMIM:300068 |
Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
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Growth delay, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis |
OMIM:614457 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Small nail, Ichthyosis, Intrauterine g... |
ORPHA:166035 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Fine hair, Growth delay, Delayed puberty, Sparse hair, Intrauterine growth retarda... |
OMIM:616817 |
Keutel Syndrome |
|
Alopecia, Short stature |
ORPHA:85202 |
Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Alopecia |
ORPHA:453533 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
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Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Generalized hirsutism, Palmoplantar hyperkeratosis, Palmoplantar ... |
ORPHA:678 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Intrauterine growth retardation, Alopecia, Fine hair |
ORPHA:228390 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Alopecia |
ORPHA:79242 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
ORPHA:409 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Alopecia, Short stature, Ichthyosis |
OMIM:163200 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:28378 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Proportionate short stature, Synophrys, Low anterior hairline, Fine hair, Severe postnatal growth... |
ORPHA:391408 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Follicular hyperkeratosis |
OMIM:615147 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Palmoplantar keratode... |
OMIM:106260 |
Kury-Isidor Syndrome |
|
Growth delay, Alopecia, Hypertrichosis |
OMIM:619762 |
Tetrasomy 12P |
|
Sparse hair, Short stature, Sparse eyebrow |
ORPHA:884 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow |
OMIM:261990 |
Monosomy 18P |
|
Alopecia, Short stature, Low posterior hairline |
ORPHA:1598 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short stature, Sparse body hair |
ORPHA:2234 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Short stature, Fine hair, Premature graying of hair, Growth delay, Nail dysplasia, Intr... |
OMIM:613990 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Short stature, Alopecia universalis |
ORPHA:3130 |
Flynn-Aird Syndrome |
|
Alopecia |
ORPHA:2047 |
Omenn Syndrome |
|
Thickened skin, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Chilblain Lupus |
|
Hyperkeratosis |
ORPHA:90280 |
Fanconi Anemia, Complementation Group S |
|
Sparse hair, Long eyelashes, Low anterior hairline, Short stature |
OMIM:617883 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... |
ORPHA:35173 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis |
OMIM:618084 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia, Short stature |
ORPHA:85279 |
Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, High anterior hairline, Short stature |
ORPHA:284180 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Rhizomelia, Sparse eyebrow, Postnatal growth retardation, Congenital ichthyosif... |
OMIM:302960 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism |
OMIM:615830 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis |
ORPHA:457 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Short stature, Trichiasis, Hyperkeratosis, Nail dysplasia, Trichodysplasia |
OMIM:601701 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Fine hair, Growth delay, Sparse or absent eyelashes, Nail dysplasia, Sparse... |
ORPHA:217346 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly |
OMIM:610644 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Short stature |
OMIM:601853 |
Dowling-Degos Disease |
|
Hyperkeratosis, Hyperkeratotic papule, Abnormal fingernail morphology |
ORPHA:79145 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Frontal upsweep of hair, Broad eyebrow |
OMIM:301220 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Short stature, Abnormal eyelash morphology, Low posterior hairli... |
ORPHA:1340 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Growth delay, Anonychia, Palmoplantar keratoderma, Nail dystrophy... |
ORPHA:79410 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Short stature, Sparse lateral eyebrow |
OMIM:190351 |
Macs Syndrome |
|
Alopecia, Short stature, Sparse eyebrow, Ichthyosis, Sparse hair |
OMIM:613075 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Short stature, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Growth delay |
OMIM:619980 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia, Short stature |
OMIM:617763 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Short stature, Concave nail, Leukonychia, Fine hair, Growth delay, ... |
OMIM:190350 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Short stature, Sparse eyelashes, Sparse eyebrow, Postnatal growth retardation, Growth delay, Nail... |
OMIM:613026 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Growth delay, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Alopecia, Short stature, Hyperkeratosis, Congenital ichthyosiform erythroderma, Mi... |
OMIM:308050 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology |
ORPHA:3453 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Short stature, Nail dystrophy, Intrauterine growth retardation |
OMIM:620040 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Ichthyosis |
OMIM:618527 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
Werner Syndrome |
|
Sparse scalp hair, Short stature, Abnormal hair whorl, Premature graying of hair, Hyperkeratosis,... |
ORPHA:902 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline |
OMIM:619320 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Short stature, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Sparse hair, ... |
ORPHA:158668 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Short stature, Thickened skin, Loss of eyelashes, Scleroderma, Hypertri... |
OMIM:263700 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Rhizomelia, Short stature, Intrauterine growth retardation |
ORPHA:163966 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Paronychia, Ridged fingernail,... |
ORPHA:37 |
Ramon Syndrome |
|
Hyperkeratosis, Short stature, Hypertrichosis |
OMIM:266270 |
Ane Syndrome |
|
Alopecia, Short stature, Delayed puberty |
ORPHA:157954 |
Joubert Syndrome 37 |
|
Sparse hair, Short stature |
OMIM:619185 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Short stature, Sparse hair |
OMIM:616200 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
Psoriasis 14, Pustular |
|
Parakeratosis, Nail dystrophy |
OMIM:614204 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Ridged finger... |
OMIM:268130 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
Short Syndrome |
|
Sparse hair, Alopecia, Severe short stature |
ORPHA:3163 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Short stature, Hyperconvex nail |
OMIM:619721 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Orthokera... |
ORPHA:79501 |
X-Linked Agammaglobulinemia |
|
Alopecia, Short stature |
ORPHA:47 |
Darier-White Disease |
|
Ridged nail, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
Milroy Disease |
|
Hyperkeratosis, Toenail dysplasia |
ORPHA:79452 |
Aredyld Syndrome |
|
Intrauterine growth retardation, Short stature, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Short stature, Abnormal hair morphology, Nail dystrophy, Delayed puberty |
ORPHA:90154 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair, Intrauterine growth retardation |
OMIM:618253 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Short stature, Thick eyebrow |
ORPHA:127 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Short stature, Hyperkeratosis, Loose anagen hair, Long eyelashes, ... |
OMIM:607721 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair, Growth delay |
OMIM:608612 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair |
OMIM:620001 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Sparse hair, Growth delay, Nail dystrophy |
ORPHA:98813 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Short stature, Supernumerary nipple, Abnormal hair morp... |
ORPHA:464 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Short stature |
OMIM:616298 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Gro... |
ORPHA:2232 |
Omenn Syndrome |
|
Thickened skin, Alopecia |
OMIM:603554 |
Johanson-Blizzard Syndrome |
|
Intrauterine growth retardation, Alopecia, Short stature, Abnormal hair pattern |
ORPHA:2315 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Ichthyosis, Scleroderma, Delayed puberty, H... |
ORPHA:168569 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia |
OMIM:618282 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia, Postnatal growth retardation, Growth delay, Acanthosis nigricans, On... |
OMIM:248370 |
Bone Marrow Failure Syndrome 3 |
|
Short stature, Hyperkeratosis, Nail dystrophy, Small nail, Sparse hair, Intrauterine growth retar... |
OMIM:617052 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Kid Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Postnatal growth retardation, Trich... |
ORPHA:477 |
Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Porokeratosis, Sparse eyelashes, Alopecia totalis, Short stature, Sparse ... |
ORPHA:2909 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Follicular hyperkeratosis, Delayed puberty |
ORPHA:486815 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Short stature, Congenital nonbullous ichthyosiform erythroderma |
ORPHA:98907 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
Hemochromatosis, Type 1 |
|
Alopecia |
OMIM:235200 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Short stature, Abnormal ey... |
ORPHA:1775 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela... |
ORPHA:544488 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Early balding, Growth delay |
ORPHA:2067 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Short stature |
ORPHA:93160 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal fingernail morphology, Broad nail, Hyperkeratosis, Abnormal toenail morphology, Abnormal... |
ORPHA:1334 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Delayed menarche, Alopecia |
ORPHA:412057 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Absent pubertal growth spurt, Sparse eyebrow, Fine hair, Ne... |
OMIM:250250 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair, Intrauterine growth retardation, Short stature |
OMIM:219150 |
Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Disproportionate short-limb short stature, Sparse hair, Intrauterine growt... |
OMIM:618644 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Nail dystrophy |
OMIM:615190 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Short stature, Absent eyelashes, Low posterior hai... |
OMIM:115150 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair |
OMIM:127550 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis |
OMIM:617066 |
Adrenoleukodystrophy |
|
Alopecia |
OMIM:300100 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Breast aplasia |
ORPHA:90153 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Short stature, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline |
OMIM:250410 |
Alstrom Syndrome |
|
Acanthosis nigricans, Alopecia, Short stature |
OMIM:203800 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail |
ORPHA:974 |
Sialidosis Type 1 |
|
Hyperkeratosis, Short stature |
ORPHA:812 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Postnatal growth retardation, Fine hair, Premature graying of hair, Nail dystrophy... |
OMIM:612199 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair |
OMIM:614105 |
Celiac Disease, Susceptibility To, 1 |
|
Postnatal growth retardation, Alopecia, Short stature, Delayed puberty |
OMIM:212750 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Short stature, Absent eyelashes, S... |
OMIM:268400 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair, Intrauterine growth r... |
OMIM:613451 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis |
OMIM:615577 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short stature, Fine hair, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Low posterior hairline |
OMIM:613174 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderma, Alopecia u... |
ORPHA:363618 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology |
ORPHA:1647 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Short stature, Thick hair, Postnatal growth retardation, Coarse hair, Sparse hair, Intrauterine g... |
ORPHA:357074 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Hypoplastic nipples, Nail dysplasia, Sp... |
OMIM:230740 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Short stature, Postnatal growth retardation, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:212066 |
Noonan Syndrome 10 |
|
Sparse eyebrow, Hyperkeratosis, Curly hair, Short stature |
OMIM:616564 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Thickened skin, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Alo... |
ORPHA:436252 |
Lymphatic Malformation 12 |
|
Hyperkeratosis |
OMIM:620014 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Short stature, Delayed puberty, Low posterior hairline |
ORPHA:2959 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Growth delay, Hyperkeratosis, Intrauterine growth retardation |
OMIM:614576 |
46,Xy Sex Reversal 6 |
|
Hirsutism, Sparse axillary hair |
OMIM:613762 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Growth delay, Palmoplantar keratoderma, Nail dystrophy, Onychogryposis |
ORPHA:79396 |
Noonan Syndrome 2 |
|
Curly hair, Short stature, Sparse eyebrow, Low posterior hairline, Hyperkeratosis |
OMIM:605275 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis |
ORPHA:36386 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Nail dystrophy, Alopecia universalis |
OMIM:240300 |
Cranioectodermal Dysplasia 3 |
|
Short stature, Short nail, Rhizomelia, Broad nail, Fine hair, Sparse hair |
OMIM:614099 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Growth delay, Nail ... |
OMIM:614008 |
Eec Syndrome |
|
Slow-growing hair, Short stature, Sparse eyebrow, Nail pits, Fine hair, Hyperkeratosis, Coarse ha... |
ORPHA:1896 |
Chromomycosis |
|
Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule |
ORPHA:182 |
Familial Keratoacanthoma |
|
Hyperkeratosis |
ORPHA:493 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Short stature, Sparse body hair |
ORPHA:3068 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Short stature, Disproportionate short-limb short stature, Sparse hair, Acanthosis nigricans, Intr... |
OMIM:616541 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Intrauterine growth retardation, Alopecia totalis |
OMIM:618775 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia |
OMIM:304790 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... |
ORPHA:2108 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia |
ORPHA:169154 |
Noonan Syndrome 14 |
|
Curly hair, Short stature, Sparse eyebrow, Low posterior hairline, Sparse hair |
OMIM:619745 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Porokeratosis, Short stature, Alopecia totalis, Growth delay, Sparse or a... |
ORPHA:221008 |
Mixed Connective Tissue Disease |
|
Scleroderma, Alopecia |
ORPHA:809 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperkeratosis, Thickened skin, Sparse hair, Palmoplantar hyperkeratosis |
OMIM:601812 |
Leprechaunism |
|
Facial hypertrichosis, Postnatal growth retardation, Thickened skin, Hyperkeratosis, Severe intra... |
ORPHA:508 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Intrauterine growth retardation, Fine hair |
OMIM:614438 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, Short stature |
ORPHA:50814 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Alopecia, Absent eyebrow, Sparse scalp hair, S... |
OMIM:308205 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Short stature, Fine hair, Delayed puberty, Sparse hair, Intrauterine growth retarda... |
OMIM:618891 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Short stature, Low anterior hairline, Low posterior ... |
OMIM:601358 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Short stature, Growth delay, Severe intrauterine growth retardation, Sparse hair, Int... |
OMIM:614114 |
Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Growth delay, Long eyelashes, ... |
OMIM:615485 |
Mogs-Cdg |
|
Alopecia, Fair hair, Long eyelashes, Hirsutism |
ORPHA:79330 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Short stature, Fine hair |
OMIM:257850 |
Neonatal Lupus Erythematosus |
|
Hyperkeratosis, Parakeratosis |
ORPHA:398124 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Growth delay, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Short stature, Hirsutism |
ORPHA:90795 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Sparse hair, Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema |
OMIM:615934 |
Scarf Syndrome |
|
Sparse hair, Hypoplastic nipples, Low posterior hairline |
ORPHA:3134 |
Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Porokeratosis, Short stature, Alopecia totalis, Growth delay, Sparse or a... |
ORPHA:221016 |
Immunodeficiency 7 |
|
Patchy alopecia |
OMIM:615387 |
Vitamin D-Dependent Rickets, Type 2A |
|
Growth delay, Alopecia universalis |
OMIM:277440 |
Marshall Syndrome |
|
Sparse hair, Short stature, Sparse eyelashes, Sparse eyebrow |
ORPHA:560 |
Hermansky-Pudlak Syndrome |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Long eyelashes |
ORPHA:79430 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Palmoplan... |
ORPHA:2710 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai... |
OMIM:604292 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Hyperkeratosis, Sparse body hair |
ORPHA:548 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, High anterior hairline |
OMIM:615510 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
Xeroderma Pigmentosum |
|
Hyperkeratosis, Thickened skin, Alopecia, Short stature |
ORPHA:910 |
Chime Syndrome |
|
Sparse hair, Hyperkeratosis, Fine hair, Ichthyosis |
ORPHA:3474 |
Linear Nevus Sebaceus Syndrome |
|
Growth delay, Alopecia |
ORPHA:2612 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai... |
OMIM:129900 |
Monosomy 22 |
|
Sparse hair, Thickened skin, Synophrys, Scleroderma |
ORPHA:96123 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Pilomatrixoma |
OMIM:620189 |
Leigh Syndrome |
|
Alopecia, Growth delay, Intrauterine growth retardation, Frontal hirsutism, Hypertrichosis |
ORPHA:506 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Severe short stature, Abnormal eyelash morphology, Abn... |
ORPHA:2273 |
Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis |
OMIM:133190 |
Gaucher Disease, Perinatal Lethal |
|
Hyperkeratosis, Intrauterine growth retardation, Congenital nonbullous ichthyosiform erythroderma... |
OMIM:608013 |
Glass Syndrome |
|
Sparse hair, Short stature, Long eyelashes, Nail dysplasia |
OMIM:612313 |
Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis |
OMIM:609180 |
Fucosidosis |
|
Generalized hyperkeratosis, Abnormality of the nail |
ORPHA:349 |
Scalp-Ear-Nipple Syndrome |
|
Short stature, Sparse axillary hair, Sparse pubic hair, Thickened skin, Fine hair, Patchy alopeci... |
OMIM:181270 |
Biotinidase Deficiency |
|
Alopecia |
OMIM:253260 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Rhizomelia, Growth delay, Nail dysplasia, Small nail, Sparse hair, Breast hypoplasia |
OMIM:614813 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Short stature, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodos... |
OMIM:222470 |
Teebi-Shaltout Syndrome |
|
Short stature, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Sparse hair |
OMIM:272950 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:93552 |
Scarf Syndrome |
|
Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline |
OMIM:312830 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia |
OMIM:613001 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... |
OMIM:608156 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Postnatal growth retardation, Synophrys, Sparse hair, Intrauterine growth retardation, Toenail dy... |
OMIM:300966 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair, Short stature |
OMIM:615349 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Alopecia universalis |
OMIM:606367 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Postnatal growth retardation, Fine hair |
ORPHA:251028 |
Subacute Cutaneous Lupus Erythematosus |
|
Hyperkeratosis |
ORPHA:163525 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Short stature, Abnormal hair morphology, Abnormal hair whorl, D... |
ORPHA:79474 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Short stature, Highly arched eyebrow, Low posterior hairline, Coar... |
OMIM:617506 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Abnormality of the nail |
ORPHA:428 |
Hamamy Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... |
OMIM:611174 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short stature, Highly arched eyebrow, Postnatal growth retardation, Fine hair, Low posterior hair... |
OMIM:613563 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Hirsutism |
ORPHA:189427 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis |
ORPHA:64745 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Nail dystrophy, Alopecia, Abnormality of the periungual region, Alopecia totalis |
ORPHA:293978 |
Systemic Sclerosis |
|
Thickened skin, Alopecia, Nail bed telangiectasia, Sclerodactyly |
ORPHA:90291 |
White-Sutton Syndrome |
|
Sparse hair, Intrauterine growth retardation, Short stature |
OMIM:616364 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Parakeratosis |
ORPHA:284426 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Intr... |
OMIM:263650 |
Giant Cell Arteritis |
|
Alopecia |
ORPHA:397 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair |
OMIM:616449 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick... |
ORPHA:73223 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, Short stature |
OMIM:607812 |
Reactive Arthritis |
|
Hyperkeratosis, Dystrophic fingernails, Abnormality of the nail |
ORPHA:29207 |
De Barsy Syndrome |
|
Sparse hair, Intrauterine growth retardation, Postnatal growth retardation, Short stature |
ORPHA:2962 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia |
OMIM:269200 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Sparse eyebrow, Fine hair, Sparse ... |
ORPHA:444072 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Growth delay, Sparse hair, Br... |
ORPHA:920 |
Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Proportionate short stature, Sparse eyebrow, Fine hair, Spar... |
OMIM:234100 |
Insulin-Resistance Syndrome Type B |
|
Acanthosis nigricans, Alopecia, Hirsutism |
ORPHA:2298 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse hair, Aplasia of the sweat glands, Sparse scalp hair |
OMIM:612132 |
Acute Radiation Syndrome |
|
Hyperkeratosis |
ORPHA:454831 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... |
ORPHA:69085 |
Goldberg-Shprintzen Syndrome |
|
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow |
OMIM:609460 |
Down Syndrome |
|
Sparse hair |
ORPHA:870 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Short stature, Pterygium of nails, Premature... |
OMIM:305000 |
Menkes Disease |
|
Hypopigmentation of hair, Thickened skin, Woolly hair, Sparse hair, Intrauterine growth retardation |
ORPHA:565 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Short stature, Sparse eyebrow, Postnatal growth retardation, Palmoplantar hyperkeratosis, Nail dy... |
OMIM:619127 |
Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Follicular hyperkeratosis |
OMIM:254090 |
Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair, Short stature |
OMIM:311200 |
Biotinidase Deficiency |
|
Alopecia |
ORPHA:79241 |
Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Sparse hair, Growth delay, Short stature, Thin nail |
OMIM:617799 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Postnatal growth retardation, Hyperkeratosis, Ichthyosis, Fair hair |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Postnatal growth retardation, Hyperkeratosis, Ichthyosis, Fair hair |
ORPHA:363958 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hyperkeratosis |
OMIM:612852 |
Agel Amyloidosis |
|
Sparse hair, Nail dystrophy |
ORPHA:85448 |
Weaver Syndrome |
|
Sparse hair, Thin nail, Deep-set nails, Fine hair |
OMIM:277590 |
Opitz-Kaveggia Syndrome |
|
Sparse hair, Frontal upsweep of hair, Short stature, Fine hair |
OMIM:305450 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Sparse body hair, Breast hypoplasia, Delayed puberty |
ORPHA:432 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair, Short stature |
OMIM:300661 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse hair, Short stature, Sparse eyebrow |
OMIM:244450 |
Focal Dermal Hypoplasia |
|
Alopecia, Abnormality of the nail |
ORPHA:2092 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Disproportionate short stature, Fine hair, H... |
OMIM:210710 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Patchy alopecia, Short stature, Thick eyebrow |
OMIM:300534 |
Orofaciodigital Syndrome Type 1 |
|
Sparse hair, Alopecia, Coarse hair, Brittle hair |
ORPHA:2750 |
Juvenile Dermatomyositis |
|
Alopecia |
ORPHA:93672 |
Restrictive Dermopathy |
|
Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl... |
ORPHA:1662 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hypoplastic nipples, Ichthyosis, S... |
OMIM:280000 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Severe short stature, Short stature, Curly eyelashes, Long eyelashes, Fingernail dyspla... |
ORPHA:3107 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Nail dystrophy |
ORPHA:37042 |
Myhre Syndrome |
|
Short stature, Thickened skin, Fine hair, Birth length less than 3rd percentile, Sparse hair, Int... |
OMIM:139210 |
Mycetoma |
|
Cobblestone-like hyperkeratosis |
ORPHA:2583 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair, Intrauterine growth retardation |
OMIM:619934 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia |
ORPHA:536532 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intrauterine growth retardation, Alopecia, Short stature |
OMIM:619321 |
Autosomal Recessive Robinow Syndrome |
|
Disproportionate short-limb short stature, Alopecia, Long eyelashes, Fingernail dysplasia |
ORPHA:1507 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Sparse eyebrow, Growth delay, Severe postnatal growth retardation, Sparse hair |
OMIM:252500 |
Woodhouse-Sakati Syndrome |
|
Growth delay, Alopecia, Aplasia/Hypoplasia of the eyebrow, Delayed puberty |
ORPHA:3464 |
Lysinuric Protein Intolerance |
|
Sparse hair, Short stature, Fine hair |
OMIM:222700 |
Localized Scleroderma |
|
Thickened skin, Abnormal skin adnexa morphology, Patchy alopecia |
ORPHA:90289 |
Marshall-Smith Syndrome |
|
Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypert... |
OMIM:602535 |
Cockayne Syndrome B |
|
Dry hair, Severe short stature, Postnatal growth retardation, Abnormal hair morphology, Sparse ha... |
OMIM:133540 |
Sympathetic Ophthalmia |
|
Alopecia, Poliosis |
ORPHA:79098 |
Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Short stature |
OMIM:601559 |
Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Breast aplasia, Abnormal fingernail morphology |
ORPHA:2036 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia |
ORPHA:2396 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Sparse hair, Severe postnatal growth retardation, Intrauterine growth retardation |
OMIM:620005 |
6Q Terminal Deletion Syndrome |
|
Hyperkeratosis, Low anterior hairline, Highly arched eyebrow |
ORPHA:75857 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Severe short stature, Loss of eyelashes, Thin eyebrow, Sparse hair, Intrauterine growth... |
ORPHA:2636 |
Cartilage-Hair Hypoplasia |
|
Sparse hair, Rhizomelia, Disproportionate short-limb short stature, Sparse eyebrow |
ORPHA:175 |
Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Short nail, Thin nail, Rhizomelia, Fine hair, Sparse hair |
OMIM:218330 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Paronychia, Growth delay, Nail dystrophy, Anonychia, Abnormality of the nail |
ORPHA:79404 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia |
ORPHA:227990 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Short stature, Thin nail, Concave nail, Sparse hair, Acanthosis nigri... |
OMIM:218040 |
Cockayne Syndrome A |
|
Dry hair, Short stature, Severe postnatal growth retardation, Sparse hair, Intrauterine growth re... |
OMIM:216400 |
Wiedemann-Rautenstrauch Syndrome |
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Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Short stature, Absent eyelashes, S... |
OMIM:264090 |
Neurocardiofaciodigital Syndrome |
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Sparse hair, Short stature, Sparse eyebrow |
OMIM:619869 |
Roberts Syndrome |
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Sparse hair, Postnatal growth retardation, Severe intrauterine growth retardation |
ORPHA:3103 |
Meige Disease |
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Cobblestone-like hyperkeratosis |
ORPHA:90186 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Postnatal growth retardation, Intrauterine growth retardation, Parakeratosis, Coarse hair |
ORPHA:83617 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Short stature, Sparse axillary hair, Sparse pubic hair, Delayed puberty, Sparse body hair |
ORPHA:90796 |
Autoimmune Polyendocrinopathy Type 3 |
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Alopecia |
ORPHA:227982 |
Lenz-Majewski Hyperostotic Dwarfism |
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Sparse hair, Intrauterine growth retardation, Short stature |
OMIM:151050 |
Kindler Epidermolysis Bullosa |
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Hyperkeratosis, Abnormal toenail morphology, Palmoplantar keratoderma |
ORPHA:2908 |
Behcet Syndrome |
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Patchy alopecia |
OMIM:109650 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Absent nipple, Short stature, Sparse eyebrow, Hypoplastic nipples, Small nail, Nail dystrophy, Sp... |
OMIM:620186 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Alopecia, Abnormal fingernail morphology, Short stature, Hypoplastic toenails, Postnatal growth r... |
ORPHA:99413 |
Turner Syndrome |
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Alopecia, Abnormal fingernail morphology, Short stature, Hypoplastic toenails, Postnatal growth r... |
ORPHA:881 |
Mosaic Monosomy X |
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Alopecia, Abnormal fingernail morphology, Short stature, Hypoplastic toenails, Postnatal growth r... |
ORPHA:99228 |
Monosomy X |
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Alopecia, Abnormal fingernail morphology, Short stature, Hypoplastic toenails, Postnatal growth r... |
ORPHA:99226 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Sparse scalp hair, Short stature, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior ... |
OMIM:619841 |
Bloom Syndrome |
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Sparse eyelashes, Paronychia, Growth delay, Severe postnatal growth retardation, Patchy alopecia,... |
ORPHA:125 |
Chronic Graft Versus Host Disease |
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Alopecia, Thickened skin, Onycholysis, Nail dystrophy, Morphea |
ORPHA:99921 |
Adams-Oliver Syndrome 1 |
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Alopecia, Supernumerary nipple, Small nail |
OMIM:100300 |
Ring Chromosome 13 Syndrome |
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Growth delay, Alopecia |
ORPHA:96176 |
De Sanctis-Cacchione Syndrome |
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Parakeratosis, Severe short stature |
OMIM:278800 |
Cranioectodermal Dysplasia 2 |
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Rhizomelia, Short stature, Sparse eyelashes, Sparse eyebrow, Sparse hair |
OMIM:613610 |
Restrictive Dermopathy 1 |
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Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Intraut... |
OMIM:275210 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Synophrys, Short stature, Follicular hyperkeratosis |
ORPHA:536545 |
Fabry Disease |
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Hyperkeratosis, Short stature, Delayed puberty |
ORPHA:324 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Hyperkeratosis |
ORPHA:79280 |
Systemic Lupus Erythematosus |
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Alopecia |
ORPHA:536 |
Phakomatosis Pigmentokeratotica |
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Patchy alopecia |
ORPHA:2874 |
Relapsing Polychondritis |
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Alopecia |
ORPHA:728 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Sparse hair, Intrauterine growth retardation, Frontal hirsutism, Short stature |
OMIM:617157 |
Focal Dermal Hypoplasia |
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Ridged nail, Brittle hair, Short stature, Supernumerary nipple, Patchy alopecia, Nail dystrophy, ... |
OMIM:305600 |
Renpenning Syndrome 1 |
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Sparse hair, Brittle hair, Short stature, Sparse lateral eyebrow |
OMIM:309500 |
Ablepharon-Macrostomia Syndrome |
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Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail |
OMIM:200110 |
Lipodystrophy, Familial Partial, Type 7 |
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Acanthosis nigricans, Sparse scalp hair, Sparse hair |
OMIM:606721 |
Wrinkly Skin Syndrome |
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Sparse hair, Intrauterine growth retardation, Postnatal growth retardation, Short stature |
ORPHA:2834 |
Trichorhinophalangeal Syndrome, Type Ii |
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Sparse scalp hair, Thick eyebrow, Mild postnatal growth retardation, Growth delay, Sparse hair, A... |
OMIM:150230 |
Lymphatic Filariasis |
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Hyperkeratosis |
ORPHA:2035 |
Steinert Myotonic Dystrophy |
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Early balding, Alopecia |
ORPHA:273 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Sparse hair, Nail dysplasia |
OMIM:616682 |
Wrinkly Skin Syndrome |
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Short stature, Short nail, Sparse hair, Intrauterine growth retardation, Fragile nails |
OMIM:278250 |
Wiedemann-Rautenstrauch Syndrome |
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Sparse scalp hair, Short stature, Synophrys, Growth delay, Sparse hair, Severe intrauterine growt... |
ORPHA:3455 |
Kikuchi-Fujimoto Disease |
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Alopecia |
ORPHA:50918 |
Kanzaki Disease |
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Hyperkeratosis |
OMIM:609242 |
Branchiooculofacial Syndrome |
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Supernumerary nipple, Postnatal growth retardation, Low posterior hairline, Premature graying of ... |
OMIM:113620 |
Hutchinson-Gilford Progeria Syndrome |
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Absent eyebrow, Alopecia totalis, Loss of eyelashes, Patchy alopecia, Delayed menarche, Dystrophi... |
ORPHA:740 |
Cowden Syndrome |
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Palmoplantar keratoderma, Generalized hyperkeratosis, Short stature |
ORPHA:201 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Follicular hyperkeratosis |
OMIM:614557 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Follicular hyperkeratosis |
OMIM:225400 |
Viss Syndrome |
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Sparse scalp hair, Alopecia, Short stature, Hirsutism |
OMIM:619472 |
Proteus Syndrome |
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Thickened skin, Generalized hyperkeratosis, Abnormality of the nail, Generalized hirsutism |
ORPHA:744 |
Menke-Hennekam Syndrome 1 |
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Sparse hair, Long eyelashes, Thick eyebrow |
OMIM:618332 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Hyperparakeratosis |
ORPHA:276280 |
Sarcoidosis |
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Alopecia |
ORPHA:797 |
African Trypanosomiasis |
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Alopecia |
ORPHA:3385 |
Pallister-Killian Syndrome |
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Sparse scalp hair, Alopecia, Sparse eyelashes, Rhizomelia, Supernumerary nipple, Mesomelic/rhizom... |
OMIM:601803 |
Primrose Syndrome |
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Sparse scalp hair, Short stature, Absent facial hair, Synophrys, Delayed puberty, Absent axillary... |
OMIM:259050 |
Vascular Ehlers-Danlos Syndrome |
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Alopecia, Short stature, Abnormality of hair texture, Abnormal eyelash morphology, Aplasia/Hypopl... |
ORPHA:286 |
Warburg-Cinotti Syndrome |
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Follicular hyperkeratosis |
OMIM:618175 |
Roberts-Sc Phocomelia Syndrome |
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Sparse hair, Postnatal growth retardation, Severe intrauterine growth retardation |
OMIM:268300 |