Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Pili Gemini |
|
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... |
ORPHA:79492 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Skin plaque, Papule, Fine hair |
OMIM:101840 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar... |
ORPHA:2722 |
Dermoodontodysplasia |
|
Thin skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Chand Syndrome |
|
Curly hair, Commissural lip pit, Nail dysplasia |
OMIM:214350 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Skin ulcer, Fine hair, Thin skin |
ORPHA:2500 |
Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Dermoodontodysplasia |
|
Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Thin skin, Trichodysplasia, Toenail d... |
ORPHA:1660 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair |
ORPHA:2985 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair, Thin skin |
ORPHA:1810 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Leopard Syndrome 2 |
|
Curly hair, Cafe-au-lait spot, Multiple lentigines, Webbed neck |
OMIM:611554 |
Copper Deficiency, Familial Benign |
|
Curly hair, Early balding |
OMIM:121270 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy, Congenital localized absence of skin |
OMIM:132000 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp... |
ORPHA:79133 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Skin dimple, Thin skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... |
OMIM:607823 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Erythematous plaque, Thin skin, Dermal atrophy, Dystr... |
ORPHA:158673 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Milia, Aplasia cutis congenita, Ename... |
ORPHA:79402 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... |
OMIM:619816 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Atrophic ... |
ORPHA:89838 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ... |
ORPHA:113 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Subcutaneous nodule, Atrophic scars, Nail dystrophy, Dermal atrophy, Abnormal toenail m... |
ORPHA:89843 |
Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair morphology, Subcu... |
ORPHA:2028 |
Loose Anagen Syndrome |
|
Abnormal hair morphology, Abnormal hair whorl |
ORPHA:168 |
Epidermolysis Bullosa Dystrophica, Autosomal Dominant |
|
Milia, Atrophic scars, Nail dystrophy, Nail dysplasia |
OMIM:131750 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Skin ulcer, Melanocytic nevus, ... |
ORPHA:978 |
Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Curly hair, Numerous nevi, Low posterior hairline, Multiple lentigines, W... |
OMIM:613707 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Fragile nails |
OMIM:617364 |
Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairline, Multiple lentigines, Webbed ne... |
OMIM:613224 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail |
ORPHA:2251 |
Noonan Syndrome 5 |
|
Curly hair, Nevus, Sparse eyebrow, Cryptorchidism, Fine hair, Multiple lentigines, Small nail, We... |
OMIM:611553 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Webbed neck, Cryptorchidism |
OMIM:616559 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Epidermolysis Bullosa Dystrophica Neurotrophica |
|
Diffuse slow skin atrophy, Nail dystrophy, Nail dysplasia |
OMIM:226500 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Hypoplastic toenails, Absent thumbnail, Absent toenail, Absent fingernail, Aplasia cutis congenit... |
ORPHA:79499 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Webbed neck |
OMIM:615279 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,... |
ORPHA:1366 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Inguinal hernia, Fine hair |
ORPHA:1174 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo... |
ORPHA:251393 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... |
OMIM:615280 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Flexion contr... |
ORPHA:75496 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... |
ORPHA:2228 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipo... |
ORPHA:2348 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Melanocytic nevus, Fine hair, Pili torti |
ORPHA:1573 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Camptodactyly of finger, Thin skin |
ORPHA:1658 |
X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Inguinal hernia, Thin skin, Hernia |
ORPHA:75497 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair |
OMIM:616351 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Nail Disorder, Nonsyndromic Congenital, 3 |
|
Abnormal hair morphology, Leukonychia, Concave nail |
OMIM:151600 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Nail dystrophy, Nail dysplasia |
ORPHA:79397 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes |
ORPHA:3363 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Thin skin, Nail dysp... |
ORPHA:217346 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Cryptorchidism, Multiple rows of eyelashes, Low posterior hairline, ... |
ORPHA:163654 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp |
OMIM:136300 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
Noonan Syndrome 8 |
|
Cryptorchidism, Curly hair, Webbed neck |
OMIM:615355 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Thin skin, Striae distensae |
OMIM:225310 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysplasia, Enamel hypo... |
OMIM:226700 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Hypoplastic nipples... |
OMIM:103285 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Enamel hypoplasia, Camptodactyly |
OMIM:619980 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Low anterior hairline, Skin ulcer... |
ORPHA:742 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Cryptorchidism, Hypopigmented skin patches, Capillary malformation, Cafe-au-lait spot |
ORPHA:457485 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipoatrophy, Polycy... |
ORPHA:79083 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
Fetal Encasement Syndrome |
|
Omphalocele, Thin skin, Congenital diaphragmatic hernia |
OMIM:613630 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Milia, Nevus, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Noonan Syndrome 7 |
|
Curly hair, Numerous nevi, Webbed neck, Low posterior hairline |
OMIM:613706 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Cafe-au-lait spot, Umbilical hernia, Curly hair |
OMIM:616638 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dysplasia |
OMIM:615704 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Thin skin |
ORPHA:1899 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Abnormality of the nail, Abnormal toenail morphology |
ORPHA:494 |
Erythrokeratodermia Variabilis |
|
Abnormal hair morphology, Alopecia, Generalized hirsutism, Abnormality of the nail |
ORPHA:317 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Sparse lateral eyebrow |
ORPHA:3406 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis, De... |
ORPHA:525 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:743 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... |
OMIM:612843 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Hyperconvex fingerna... |
ORPHA:257 |
Focal Facial Dermal Dysplasia Type Iii |
|
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyeb... |
ORPHA:1807 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Aplasia/Hypopl... |
ORPHA:280365 |
Familial Cervical Artery Dissection |
|
Abnormality of connective tissue, Thin skin, Striae distensae |
ORPHA:36382 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy, Thin skin, Dermal ... |
ORPHA:90154 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Trichorrhexis nodosa, Breast aplasia, Thin skin, Gener... |
ORPHA:238468 |
Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin |
ORPHA:745 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Dystrophic fingernails, Sparse bod... |
OMIM:150400 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Aplasti... |
ORPHA:1812 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy |
OMIM:133690 |
Noonan Syndrome 4 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Webbed neck, High anterior hairline |
OMIM:610733 |
Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Thin ... |
OMIM:614438 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, Abnorma... |
ORPHA:2963 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Inguinal hernia, Thin skin |
OMIM:225320 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Cryptorchidism, Thin skin, Sparse hair, Umbilical hernia |
OMIM:219150 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Highly arched eyebrow, Low posterior hairline, Camptodactyly, Thick eyebrow, Nevus fl... |
OMIM:617360 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Webbed neck, Sparse hair |
OMIM:619745 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Breast aplasia, Thi... |
ORPHA:90153 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Thin skin |
ORPHA:157965 |
Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin |
ORPHA:735 |
Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Congenital diaphragmatic hernia, Cryptorchidism, Widow's pea... |
OMIM:304110 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Epidermoid cyst, Sparse eyebrow, Nail dyst... |
OMIM:167210 |
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... |
ORPHA:2930 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low poste... |
OMIM:617506 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Camptodactyly of finger, Coarse hair, Joint contracture of the 5th finger, Sparse hair |
ORPHA:1883 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Abnormality of the nail |
ORPHA:79394 |
Hereditary Bullous Dystrophy, Macular Type |
|
Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia |
ORPHA:1867 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Thin skin |
OMIM:259410 |
Marshall-Smith Syndrome |
|
Generalized hirsutism, Thin skin |
ORPHA:561 |
Ritscher-Schinzel Syndrome 4 |
|
Cryptorchidism, Curly hair |
OMIM:619435 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis |
OMIM:300918 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck, Joint contracture of the ... |
OMIM:612350 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Skin erosion, Atrophic scars, Nail dystrophy, Aplasia cutis ... |
ORPHA:79411 |
Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
Fg Syndrome 3 |
|
Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture |
OMIM:300406 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair |
ORPHA:3051 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Thin skin, Hirsutism, Striae distensae |
OMIM:219090 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ... |
OMIM:234050 |
Silver-Russell Syndrome 2 |
|
Thin skin |
OMIM:618905 |
Classic Mycosis Fungoides |
|
Alopecia, Abnormality of the nail |
ORPHA:2584 |
Focal Dermal Hypoplasia |
|
Omphalocele, Macule, Alopecia, Inguinal hernia, Aplasia/Hypoplasia of the skin, Abnormal dental e... |
ORPHA:2092 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
Chops Syndrome |
|
Curly hair, Thick hair, Cryptorchidism, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow |
OMIM:616368 |
Periventricular Nodular Heterotopia |
|
Thin skin, Hernia |
ORPHA:98892 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow, Hypoplastic... |
OMIM:601345 |
Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia |
OMIM:616576 |
Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Thin skin |
OMIM:112250 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia |
ORPHA:3143 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
Recon Progeroid Syndrome |
|
Hyperconvex thumb nails, Hirsutism, Thin skin, Absent lower eyelashes |
OMIM:620370 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Sacral dimple, Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Inguinal hernia, Cryptorchidism, Loose anagen hair, Long eyelashes... |
OMIM:607721 |
Chand Syndrome |
|
Curly hair, Commissural lip pit, Skin erosion, Nail dysplasia |
ORPHA:1401 |
Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Numerous nevi, Slow-growing hair, Absent eyelashes, Low posterior hai... |
OMIM:115150 |
Noonan Syndrome 2 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Nevus, Arthrogryposis multipl... |
OMIM:605275 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Thin skin, Sparse hair |
OMIM:612199 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Generalized h... |
ORPHA:2221 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Cafe-au-lait spot, Trichorrhexis n... |
OMIM:222470 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia |
OMIM:612079 |
Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Webbed neck, Cafe-au-lait spot |
OMIM:616564 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... |
ORPHA:79100 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Abnormal dental enam... |
ORPHA:2710 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Alopecia of scalp, Nail dystrophy |
OMIM:618373 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Anonychia, Absent fingernail, Alopecia totalis, Alopecia universalis |
OMIM:609638 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... |
ORPHA:2269 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia |
OMIM:215100 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy |
ORPHA:100976 |
Glass Syndrome |
|
Inguinal hernia, Long eyelashes, Thin skin, Nail dysplasia, Camptodactyly, Sparse hair |
OMIM:612313 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Synophrys, Widow's peak, Thin skin, Thin eyebrow, Cafe-au-lait spot |
OMIM:617804 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes, Fi... |
ORPHA:920 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ... |
ORPHA:1979 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Onycholysis, Nail dystrophy |
OMIM:270300 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair |
OMIM:616943 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Umbilical hernia, Toenail dysplasia, Aplasia cutis congenita |
OMIM:615297 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Woolly hair, Synophrys, Coarse hair, Distal arthrogryposis, Long eyelashes, Hypoplast... |
OMIM:618268 |
Weaver Syndrome |
|
Deep-set nails, Inguinal hernia, Abnormal fingernail morphology, Thin nail, Camptodactyly of fing... |
ORPHA:3447 |
Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Skin nodule, Thin skin, Dermal atrophy, Sparse hair, Keloids, Joint contracture, Fle... |
OMIM:601812 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia |
ORPHA:88630 |
Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Low anterior hairline, Dermal atrophy, Thin eye... |
ORPHA:1787 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Abnormal hair morphology, Alopecia, Thin nail, Small nail |
OMIM:242100 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe... |
ORPHA:1520 |
Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Trichorrhexis nodosa, Small nail, Pili torti, Fragile nails, Sparse lateral eyebrow |
OMIM:261990 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Polycystic ovaries, Premature graying o... |
ORPHA:100 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Lipoatrophy, Absence of subcutaneous fat, Ovarian cyst, Thin skin |
OMIM:269880 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deep-set nails, Thin skin |
OMIM:201170 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Thin eyebrow |
ORPHA:3242 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin |
ORPHA:230839 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism |
OMIM:615830 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry... |
ORPHA:2309 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrophic scars, Inguinal hernia, Thin skin, Thick eyebrow |
ORPHA:230851 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Thin skin, Striae distensae |
OMIM:219080 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair |
OMIM:605676 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Congenital diaphragmatic hernia, Highly arched eyebrow, Asymmetric, linear skin defects, Nail dys... |
OMIM:300887 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cryptorchidism, Hypopigmentation of hair, Inguinal hernia, Thin skin |
ORPHA:2719 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... |
ORPHA:3253 |
Giant Axonal Neuropathy |
|
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi |
ORPHA:643 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... |
OMIM:300953 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia |
OMIM:615821 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Congenital diaphragmatic hernia, Cryptorchidism, Thin skin, Campto... |
OMIM:617602 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai... |
ORPHA:1028 |
Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small nail |
ORPHA:384 |
Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes |
ORPHA:2316 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Hypopigmented skin patches, Skin ulcer, Dystrophic toenail, Nail dystrop... |
ORPHA:2907 |
Distal Duplication 6P |
|
Abnormal hair quantity, Sacral dimple, Abnormal eyelash morphology, Fine hair, Hernia |
ORPHA:1745 |
Flynn-Aird Syndrome |
|
Alopecia |
ORPHA:2047 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hiatus hernia,... |
ORPHA:1901 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Adenoma sebaceum, Multipl... |
ORPHA:3353 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
De Barsy Syndrome |
|
Inguinal hernia, Lipodystrophy, Cryptorchidism, Thin skin, Sparse hair, Umbilical hernia |
ORPHA:2962 |
Xeroderma Pigmentosum |
|
Macule, Alopecia, Hypermelanotic macule, Cryptorchidism, Hypopigmented skin patches, Melanocytic ... |
ORPHA:910 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Sézary Syndrome |
|
Alopecia, Nail dystrophy |
ORPHA:3162 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst, Thin skin, Striae distensae |
OMIM:610475 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dyst... |
ORPHA:1657 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Fine hair |
ORPHA:3236 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology |
ORPHA:3453 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Synophrys, Coarse hair, Umbilical hernia, Hirsutism |
OMIM:252900 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Fragile nails |
OMIM:242150 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... |
OMIM:608612 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Inguinal hernia, Hiatus hernia, Atrophic scars, Thin skin, Umbilical hernia |
OMIM:130080 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Curly hair, Sacral dimple, Low anterior hairline, Long eyela... |
OMIM:619950 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology |
ORPHA:659 |
Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse hair, Preauricular skin tag, Thin skin, Sparse eyebrow |
OMIM:244450 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Nail dystrophy, Thin skin |
OMIM:615895 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair |
OMIM:607626 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Slow-growing hair, Abnormal hair morphology, Cryptorchidism, Uncombable hair, Hernia of the abdom... |
ORPHA:3082 |
Superficial Epidermolytic Ichthyosis |
|
Thin skin |
ORPHA:455 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia |
ORPHA:79242 |
Stuve-Wiedemann Syndrome 1 |
|
Elbow flexion contracture, Knee flexion contracture, Thin skin, Camptodactyly, Sparse hair, Contr... |
OMIM:601559 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1214 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Inguinal hernia, Absence of Stensen duct, Decreased response to growth hormone... |
OMIM:129900 |
Kury-Isidor Syndrome |
|
Alopecia, Hypertrichosis |
OMIM:619762 |
Bresek Syndrome |
|
Alopecia |
ORPHA:85284 |
Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Curry-Jones Syndrome |
|
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirsutism |
ORPHA:1553 |
Monosomy 18P |
|
Alopecia, Low posterior hairline |
ORPHA:1598 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Aplasia/Hypoplasia of the skin, Lipoatrophy, Abnormal hair morp... |
ORPHA:79474 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Decreased testicular size, Fine hair |
ORPHA:251019 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Abnormal fingernail morphology, Thick hair, Decreased response to growth hormone stim... |
ORPHA:444077 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
Osteogenesis Imperfecta, Type Ii |
|
Thin skin |
OMIM:166210 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H... |
OMIM:308300 |
Even-Plus Syndrome |
|
Sparse hair, Aplasia cutis congenita, Synophrys, Highly arched eyebrow |
OMIM:616854 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Polycystic ovaries |
ORPHA:1643 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes |
OMIM:137940 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Brittle hair, Lipodystrophy, Abnormality of hair texture, Coarse hair |
OMIM:219200 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Skin ulcer, Fine hair |
ORPHA:1806 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Concave nail, Cryptorchidism, Fine hair, Small nail, Decreased t... |
OMIM:300978 |
Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Coarse hair, Hernia, Hirsutism, Hypertrichosis |
OMIM:252930 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Atrophic scars, Nail dystrophy, Nail dysplasia, Arthro... |
OMIM:226730 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contracture, Knee f... |
OMIM:151050 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia |
ORPHA:85279 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor... |
ORPHA:634 |
Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Congenital d... |
ORPHA:1647 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Concave nail, Achilles tendon contracture, Webbed neck, Ne... |
OMIM:218040 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Omphalocele, Absent eyelashes, Hypoplastic nipples, Thin skin, Ca... |
OMIM:200110 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection |
OMIM:158310 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia |
OMIM:618282 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia |
OMIM:601853 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Flexion contracture, Absence of subcutaneous fat, Fine hair, Fragile... |
OMIM:601675 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Alopecia, Sparse eyelashes |
OMIM:610768 |
Hall-Riggs Syndrome |
|
Coarse hair, Abnormal dental enamel morphology, Slow-growing hair, Thick hair |
ORPHA:2107 |
Hemochromatosis, Type 1 |
|
Alopecia |
OMIM:235200 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
Geroderma Osteodysplastica |
|
Thin skin, Hernia |
ORPHA:2078 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Fine hair, Nail ... |
OMIM:257980 |
Meier-Gorlin Syndrome 1 |
|
Hyperconvex nail, Cryptorchidism, Flexion contracture, Long eyelashes, Thin skin, Camptodactyly, ... |
OMIM:224690 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... |
ORPHA:35173 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... |
OMIM:606721 |
Fetal Hydantoin Syndrome |
|
Cryptorchidism, Low posterior hairline, Coarse hair, Hernia, Hypoplastic fingernail |
ORPHA:1912 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Aplasia cutis congenita, Flexion contracture |
OMIM:612138 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Agenesis of pineal gland, Multiple joint contractures, Inguinal hernia, Numero... |
ORPHA:536471 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Thin skin, Striae distensae |
OMIM:610489 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of... |
ORPHA:37 |
Omenn Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Adrenoleukodystrophy |
|
Alopecia |
OMIM:300100 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis |
OMIM:615577 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology |
ORPHA:1005 |
Cushing Disease |
|
Sparse scalp hair, Striae distensae, Adrenal hyperplasia, Dorsocervical fat pad, Pituitary cortic... |
ORPHA:96253 |
Acrofacial Dysostosis, Catania Type |
|
Preauricular pit, Inguinal hernia, Abnormal hair pattern, Cryptorchidism, Coarse hair, Webbed neck |
ORPHA:1786 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... |
ORPHA:158687 |
Netherton Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair |
OMIM:256500 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, Thin skin, ... |
OMIM:208050 |
Barber-Say Syndrome |
|
Aplasia/Hypoplasia of the skin, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, ... |
ORPHA:1231 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Premature graying of hair, Alopecia, Nail dysplasia, Fine hair |
OMIM:613990 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow |
OMIM:619244 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Hip contracture, Coarse hair, Knee flexion contracture |
OMIM:118650 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair |
OMIM:127550 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia, Small nail |
ORPHA:166035 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
ORPHA:544488 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Knee flexi... |
OMIM:619503 |
X-Linked Agammaglobulinemia |
|
Alopecia |
ORPHA:47 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Sparse scalp hair, Pancreatic cysts, Frontal upsweep of hair, Thin skin, Umbilical hernia, Fair hair |
OMIM:266920 |
Zttk Syndrome |
|
Absent gallbladder, Curly hair, Sparse eyebrow, Flexion contracture, Broad eyebrow |
OMIM:617140 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Cryptorchidism, Fine hair |
OMIM:616817 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Premature graying of hair, Dermal atrophy, Nail dystrophy, Generalized hypopig... |
ORPHA:3322 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Thin skin |
ORPHA:449291 |
Ogden Syndrome |
|
Inguinal hernia, Cryptorchidism, Fine hair, Capillary malformation, Aplasia/Hypoplasia of the eye... |
ORPHA:276432 |
Werner Syndrome |
|
Sparse scalp hair, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, Abnormal hair whor... |
ORPHA:902 |
Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy |
OMIM:620040 |
Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Flexion cont... |
ORPHA:158684 |
Ane Syndrome |
|
Alopecia |
ORPHA:157954 |
Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Aplasia cutis congenita, Hypoplastic toenails, Cutis marmorata telangiectatica c... |
OMIM:616028 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Thin skin |
OMIM:616592 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail |
ORPHA:974 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia |
OMIM:304790 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia |
ORPHA:412057 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Dorsocervical fat pad, Synophrys, Low anterior hairline, Fine hair, Sparse hair |
ORPHA:391408 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Fine hair |
OMIM:619428 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... |
OMIM:106260 |
Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern |
ORPHA:2315 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Nail dystrophy, Alopecia universalis |
OMIM:240300 |
Immunodeficiency 7 |
|
Patchy alopecia |
OMIM:615387 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashe... |
OMIM:264090 |
Adams-Oliver Syndrome 3 |
|
Hypoplastic fifth fingernail, Aplasia cutis congenita |
OMIM:614814 |
Gorlin-Chaudhry-Moss Syndrome |
|
Umbilical hernia, Coarse hair, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia |
ORPHA:169154 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Tiger tail banding, Brittle hair, Trichorrhexis nodosa |
OMIM:616395 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Synophrys, Atypical scarring of skin, Thin skin, Umbilical hernia |
ORPHA:536545 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Femoral hernia, Thin skin, Hiatus hernia |
ORPHA:3342 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair, Hydrocele testis |
OMIM:618810 |
Intellectual Disability, Buenos-Aires Type |
|
Umbilical hernia, Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Thin skin |
OMIM:166200 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atrophic scars, Multiple joint contractures, Dentinogenesis imperfecta, Thin skin |
ORPHA:536467 |
Restrictive Dermopathy 1 |
|
Sparse eyelashes, Short nail, Limb joint contracture, Absent eyelashes, Sparse eyebrow, Flexion c... |
OMIM:275210 |
Galloway-Mowat Syndrome 9 |
|
Coarse hair, Hiatus hernia |
OMIM:619603 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
Macs Syndrome |
|
Sparse hair, Alopecia, Sparse eyebrow |
OMIM:613075 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia |
OMIM:163200 |
Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Abnormal dental enamel morphology, Concave nail, ... |
ORPHA:3071 |
Gapo Syndrome |
|
Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes |
ORPHA:2067 |
Omenn Syndrome |
|
Alopecia |
OMIM:603554 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Preauricular skin tag, Mongolian blue spot, Dry hair, Low anterior hairline |
OMIM:618569 |
Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail |
OMIM:268130 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Pineal cyst, Thin skin, Hi... |
OMIM:615873 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Stiff Skin Syndrome |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Lipoatrophy |
ORPHA:2833 |
Mogs-Cdg |
|
Alopecia, Fair hair, Long eyelashes, Hirsutism |
ORPHA:79330 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Macule, Abnormal fingernail morp... |
ORPHA:1775 |
Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Hernia, Thick eyebrow |
ORPHA:1394 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Nevus, S... |
OMIM:613451 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Long eyelashes, Fine hair |
OMIM:620250 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia |
OMIM:617763 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Broad n... |
ORPHA:464 |
Biotinidase Deficiency |
|
Alopecia |
OMIM:253260 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... |
OMIM:230740 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... |
ORPHA:79480 |
Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture |
ORPHA:2752 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal dental enamel morphology, Spar... |
ORPHA:1071 |
Diamond-Blackfan Anemia 21 |
|
Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Nevus |
OMIM:620072 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis |
OMIM:618775 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Sacral dimple, Cyst of the ductus choledochus, Hypoplastic nipples, Hypertrichosis |
ORPHA:480880 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairl... |
ORPHA:1340 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Dermal a... |
ORPHA:2108 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia |
OMIM:613001 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Low posterior hairline |
ORPHA:2959 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Lipoatrophy, Decreased response to growth... |
ORPHA:3455 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Abnormality of the nail |
ORPHA:428 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Molluscoid pseudotumors, Inguinal hernia, Thin skin |
OMIM:225400 |
Schimke Immunoosseous Dysplasia |
|
Macule, Hypermelanotic macule, Bilateral cryptorchidism, Fine hair, Coarse hair |
OMIM:242900 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a... |
OMIM:248370 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, White hair, Fine hair |
ORPHA:935 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Brittle hair |
OMIM:236200 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Hirsutism |
ORPHA:90795 |
Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Coarse hair |
OMIM:605309 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:93552 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Alopecia universalis |
OMIM:606367 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Dorsocervical fat pad, Striae ... |
ORPHA:99889 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy |
OMIM:614008 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia |
ORPHA:98907 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the skin, Slow-growing hair, Decreased response to growth hormone stimulati... |
ORPHA:1896 |
Koolen-De Vries Syndrome |
|
Cryptorchidism, Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hair ... |
ORPHA:96169 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia |
OMIM:269200 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair |
OMIM:614091 |
Multiple Sulfatase Deficiency |
|
Coarse hair, Thick eyebrow |
ORPHA:585 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Hypertrichosis |
OMIM:263700 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis |
ORPHA:363618 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sparse eyebrow, Absent gallbladder, Curly hair, Broad lateral eyebrow |
ORPHA:500150 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Hirsutism |
ORPHA:189427 |
Alstrom Syndrome |
|
Alopecia |
OMIM:203800 |
Trisomy 20P |
|
Inguinal hernia, Thick hair, Highly arched eyebrow, Camptodactyly of finger, Cryptorchidism, Low ... |
ORPHA:261318 |
Mixed Connective Tissue Disease |
|
Alopecia |
ORPHA:809 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Nail dystrophy, Alopecia, Abnormality of the periungual region, Alopecia totalis |
ORPHA:293978 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Lipodystrophy, Thick hair, Abnormal subcutaneous fat tissue distribution, Coarse... |
ORPHA:357074 |
Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis |
OMIM:277440 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Fine hair |
OMIM:614800 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia |
ORPHA:2612 |
Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Flexion contracture, Low anterior hairline, Low posterior hairline, Coarse hair, Long ... |
OMIM:617303 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Preauricular skin tag, Fine hair |
OMIM:616202 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia |
OMIM:212750 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Trichorrhexis nodosa |
OMIM:207900 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hypertrichosis |
ORPHA:168569 |
Vascular Ehlers-Danlos Syndrome |
|
Macule, Alopecia, Inguinal hernia, Abnormality of hair texture, Abnormal eyelash morphology, Cryp... |
ORPHA:286 |
Genitopatellar Syndrome |
|
Hip contracture, Sparse scalp hair, Cryptorchidism, Knee flexion contracture, Fine hair, Arthrogr... |
ORPHA:85201 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Umbilical hernia, Inguinal hernia, Abnormality of hair texture |
ORPHA:79351 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion contracture, C... |
OMIM:612394 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Aplasia cutis congenita on trunk or limbs, Scarring, Atrophic scars, Nail dystrophy, Ap... |
ORPHA:79396 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Weaver Syndrome |
|
Deep-set nails, Inguinal hernia, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Melanocy... |
OMIM:277590 |
Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
Giant Cell Arteritis |
|
Alopecia |
ORPHA:397 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... |
ORPHA:69085 |
Opitz-Kaveggia Syndrome |
|
Skin tags, Inguinal hernia, Multiple joint contractures, Sacral dimple, Cryptorchidism, Fine hair... |
OMIM:305450 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Fine ... |
ORPHA:2637 |
Biotinidase Deficiency |
|
Alopecia |
ORPHA:79241 |
Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
Nodular Non-Suppurative Panniculitis |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Panniculitis |
ORPHA:33577 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Cryptorchidism, Coarse hair, Umbilical hernia, Keloids |
OMIM:130720 |
Koolen-De Vries Syndrome |
|
Cryptorchidism, Sacral dimple, Fair hair, Abnormality of hair texture |
OMIM:610443 |
Cranioectodermal Dysplasia 3 |
|
Sparse hair, Broad nail, Short nail, Fine hair |
OMIM:614099 |
Leigh Syndrome |
|
Alopecia, Frontal hirsutism, Hypertrichosis |
ORPHA:506 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Cryptorchidism, Dermal atrophy, Join... |
OMIM:615381 |
Loeys-Dietz Syndrome |
|
Atypical scarring of skin, Striae distensae, Camptodactyly of finger, Thin skin |
ORPHA:60030 |
Mucopolysaccharidosis, Type Iiid |
|
Inguinal hernia, Synophrys, Achilles tendon contracture, Hirsutism, Elbow flexion contracture, Co... |
OMIM:252940 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Inguinal hernia, Hypoplasia of the thymus, Uncombable hai... |
ORPHA:84064 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Multiple joint contractures, Concave na... |
ORPHA:33364 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Inguinal hernia, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Nevus, Cryptorchidism, ... |
ORPHA:2990 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Enamel hypoplasia, Brittle hair |
OMIM:619184 |
2P15P16.1 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Sparse eyebrow, Fine hair, Long e... |
ORPHA:261349 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Elbow flexion contracture, Thin skin, Flexion contracture of finger, W... |
OMIM:618175 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Flexion contracture, Fine hair |
OMIM:618891 |
Poikiloderma With Neutropenia |
|
Sparse eyebrow, Low posterior hairline, Dermal atrophy, Nail dystrophy, Sparse lateral eyebrow |
OMIM:604173 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Sparse hair, Abno... |
ORPHA:2909 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Highly arched eyebrow, Cryptorchidism, Fine hair, Low posterior hairline, Webbed neck, Sparse hai... |
OMIM:613563 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Multiple lipomas, Patchy alopecia, Breast apl... |
OMIM:181270 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Inguinal hernia, Preauricular skin tag, Cryptorchidi... |
OMIM:601358 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Anon... |
OMIM:263650 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Dermal atrophy, S... |
OMIM:234100 |
Juvenile Dermatomyositis |
|
Alopecia |
ORPHA:93672 |
Behcet Syndrome |
|
Patchy alopecia |
OMIM:109650 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Sympathetic Ophthalmia |
|
Alopecia, Poliosis |
ORPHA:79098 |
Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Genital hernia, Cystocele, Subcutaneous nodule, Atypical scarring of skin, Thin ... |
ORPHA:285 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow |
OMIM:302960 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Joint contracture of the 5th finger, Sparse hair, Enamel ... |
OMIM:164200 |
Mucopolysaccharidosis, Type Vii |
|
Flexion contracture, Hirsutism, Coarse hair, Umbilical hernia, Thick eyebrow |
OMIM:253220 |
Xeroderma Pigmentosum Variant |
|
Dermal atrophy |
ORPHA:90342 |
Menkes Disease |
|
Hypopigmentation of hair, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Hernia, S... |
ORPHA:565 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Nail dystrophy |
ORPHA:37042 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Sparse hair, Nail dystrophy, Alopecia universalis |
ORPHA:158668 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Cryptorchidism, Coarse hair, Brittle hair |
OMIM:607812 |
Noonan Syndrome |
|
Abnormal hair quantity, Cryptorchidism, Melanocytic nevus, Low posterior hairline, Coarse hair, W... |
ORPHA:648 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Cryptorchidism, Decreased testicular size, Fine hair |
ORPHA:251028 |
Systemic Sclerosis |
|
Alopecia, Nail bed telangiectasia |
ORPHA:90291 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair |
ORPHA:444072 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia |
ORPHA:536532 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Small nail |
OMIM:308050 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Hirsutism |
ORPHA:2298 |
Orofaciodigital Syndrome Type 1 |
|
Sparse hair, Alopecia, Coarse hair, Brittle hair |
ORPHA:2750 |
Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai... |
OMIM:305000 |
Barber-Say Syndrome |
|
Absent nipple, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Low anterior hair... |
OMIM:209885 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia |
ORPHA:2396 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia |
ORPHA:227990 |
Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... |
ORPHA:221008 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Sparse body hair |
ORPHA:548 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Sparse scalp hair, Sacral dimple, Abnormal fingernail morphology, Hypoplastic... |
ORPHA:235 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skin erosion, Flexion contracture, Atypical scarring of skin, Nail dysplasia, Nevus, Aplasia cuti... |
ORPHA:89842 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia |
ORPHA:227982 |
Adrenomyeloneuropathy |
|
Adrenocorticotropic hormone excess, Frontal balding, Fine hair |
ORPHA:139399 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Patchy alopecia, Thick eyebrow |
OMIM:300534 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Dry hair, Abnormal hair morphology, Cryptorchidism, Atypical... |
OMIM:133540 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Inguinal hernia, Highly arched eyebrow, Fine hair, Hydrocele testis, Webbed neck, Umbilical herni... |
OMIM:280000 |
Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... |
ORPHA:221016 |
Dermatomyositis |
|
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Skin ulcer, Cellulitis, Chondrocalcinosis... |
ORPHA:221 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,... |
ORPHA:2273 |
Autosomal Recessive Robinow Syndrome |
|
Alopecia, Long eyelashes, Fingernail dysplasia |
ORPHA:1507 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi... |
ORPHA:3107 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Abnormal fingernail morphology, Synophrys, Low anterior hairline, Skin ulcer, Co... |
ORPHA:955 |
Mucolipidosis Type Ii |
|
Hip contracture, Dry hair, Inguinal hernia, White hair, Knee flexion contracture, Fine hair, Umbi... |
ORPHA:576 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Aplasia cutis congenita, Enamel hypoplasia, Nail dystrophy |
ORPHA:79403 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Synophrys, Sparse hair, Aplasia cutis congenita, Toenail dysplasia, Hirsutism |
OMIM:300966 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Small nail, Supernumerary nipple |
OMIM:100300 |
Marshall-Smith Syndrome |
|
Omphalocele, Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synop... |
OMIM:602535 |
Dysosteosclerosis |
|
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology |
ORPHA:1782 |
Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:536 |
Focal Dermal Hypoplasia |
|
Ridged nail, Omphalocele, Inguinal hernia, Brittle hair, Supernumerary nipple, Congenital diaphra... |
OMIM:305600 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy |
OMIM:614748 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Localized hypoplasia of dental ... |
ORPHA:73223 |
Chime Syndrome |
|
Sparse hair, Skin ulcer, Fine hair |
ORPHA:3474 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail |
ORPHA:79404 |
Phakomatosis Pigmentokeratotica |
|
Patchy alopecia |
ORPHA:2874 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, Absent eyelashes, Atrichia... |
OMIM:308205 |
Lyme Disease |
|
Skin nodule, Dermal atrophy |
ORPHA:91546 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia |
OMIM:619321 |
Mucopolysaccharidosis Type 3 |
|
Inguinal hernia, Thick hair, Synophrys, Flexion contracture, Coarse hair, Umbilical hernia, Gener... |
ORPHA:581 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Cryptorchidism, Atypical scarring... |
OMIM:216400 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Patchy alopecia |
ORPHA:90289 |
Relapsing Polychondritis |
|
Alopecia |
ORPHA:728 |
Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Thick hair, Hiatus hernia, Atypical scarring of skin, ... |
ORPHA:198 |
Mucolipidosis Ii Alpha/Beta |
|
Inguinal hernia, Brittle hair, Sparse eyebrow, Camptodactyly, Sparse hair, Umbilical hernia, Arth... |
OMIM:252500 |
Cranioectodermal Dysplasia 1 |
|
Inguinal hernia, Slow-growing hair, Thin nail, Short nail, Fine hair, Sparse hair, Enamel hypoplasia |
OMIM:218330 |
Oculoectodermal Syndrome |
|
Epidermal nevus, Supernumerary nipple, Aplasia cutis congenita, Pineal cyst, Preauricular skin tag |
OMIM:600268 |
Xeroderma Pigmentosum, Complementation Group A |
|
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus |
OMIM:278700 |
Lysinuric Protein Intolerance |
|
Sparse hair, Fine hair |
OMIM:222700 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow |
ORPHA:2636 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Fair hair |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Fair hair |
ORPHA:363958 |
Ring Chromosome 13 Syndrome |
|
Alopecia |
ORPHA:96176 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent nipple, Cryptorchidism, Synophrys,... |
OMIM:612289 |
Desmosterolosis |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:35107 |
Occipital Horn Syndrome |
|
Coarse hair, Pili torti, Hiatus hernia |
OMIM:304150 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture |
ORPHA:667 |
Subacute Cutaneous Lupus Erythematosus |
|
Annular cutaneous lesion, Dermal atrophy |
ORPHA:163525 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Inguinal hernia, Sacral dimple, Congenital diaphragmatic hernia, Pre... |
OMIM:135900 |
Melnick-Needles Syndrome |
|
Omphalocele, Coarse hair, Frontal hirsutism |
OMIM:309350 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Pituitary adenoma, Elbow flexion contracture, Fine hair, Small nail, A... |
ORPHA:96149 |
Kikuchi-Fujimoto Disease |
|
Alopecia |
ORPHA:50918 |
Restrictive Dermopathy |
|
Multiple joint contractures, Short nail, Camptodactyly of finger, Sparse eyebrow, Aplasia/Hypopla... |
ORPHA:1662 |
Branchiooculofacial Syndrome |
|
Preauricular pit, Supernumerary nipple, Cryptorchidism, Lower lip pit, Elbow flexion contracture,... |
OMIM:113620 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Congenital diap... |
ORPHA:2556 |
Steinert Myotonic Dystrophy |
|
Early balding, Alopecia |
ORPHA:273 |
Ogden Syndrome |
|
Inguinal hernia, Sparse eyebrow, Cryptorchidism, Fine hair, Hydrocele testis, Long eyelashes, Cap... |
OMIM:300855 |
Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Abnormal dental enamel morphology, Flexi... |
ORPHA:2908 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Hyperparathyroidism, Inguinal hernia, Abnormal dental enamel morphology, Crypt... |
ORPHA:534 |
Cockayne Syndrome Type 3 |
|
Premature graying of hair, Dry hair, Flexion contracture, Enamel hypoplasia |
ORPHA:90324 |
Myhre Syndrome |
|
Cryptorchidism, Fine hair, Camptodactyly, Sparse hair, Thick eyebrow |
OMIM:139210 |
Chronic Graft Versus Host Disease |
|
Alopecia, Onycholysis, Nail dystrophy |
ORPHA:99921 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv... |
ORPHA:99413 |
Turner Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv... |
ORPHA:881 |
Mosaic Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv... |
ORPHA:99228 |
Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv... |
ORPHA:99226 |
Renpenning Syndrome 1 |
|
Brittle hair, Camptodactyly, Sparse hair, Joint contracture of the hand, Decreased testicular siz... |
OMIM:309500 |
Noonan Syndrome 1 |
|
Cryptorchidism, Low posterior hairline, Webbed neck, Woolly hair, Cafe-au-lait spot |
OMIM:163950 |
Neuroocular Syndrome |
|
Sacral dimple, Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Umbili... |
OMIM:619539 |
Cutis Marmorata Telangiectatica Congenita |
|
Multiple cafe-au-lait spots, Skin erosion, Aplasia/Hypoplasia of the skin, Blue nevus |
ORPHA:1556 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Biliary hyperplasia, Cryptorchidism, Contracture of the distal interphalangeal j... |
ORPHA:83617 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Aplasia/Hypoplasia of the skin, Femoral hernia, Abnormal dental enamel morpholog... |
ORPHA:2658 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Dry hair, Cryptorchidism, Fine hair, Contractures of the lar... |
ORPHA:191 |
Kindler Syndrome |
|
Ridged nail, Dermal atrophy, Spotty hypopigmentation, Diffuse skin atrophy |
OMIM:173650 |
Coffin-Lowry Syndrome |
|
Inguinal hernia, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Uterine prolapse, T... |
OMIM:303600 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... |
OMIM:210710 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Loss of eyelashes, Patchy alopecia, Dystrophic fingernails, Dys... |
ORPHA:740 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair |
OMIM:124000 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Flexion contracture, Atrophic scars, Nail dystrophy, Aplasia cutis congen... |
ORPHA:79408 |
Xeroderma Pigmentosum, Complementation Group E |
|
Dermal atrophy |
OMIM:278740 |
Sarcoidosis |
|
Alopecia |
ORPHA:797 |
African Trypanosomiasis |
|
Alopecia |
ORPHA:3385 |
Toriello-Lacassie-Droste Syndrome |
|
Aplasia/Hypoplasia of the skin |
ORPHA:3339 |
Liver Disease, Severe Congenital |
|
Dry hair, Inguinal hernia, Biliary hyperplasia, Blue nevus, Hydrocele testis, Nail dystrophy, Umb... |
OMIM:619991 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Hirsutism |
OMIM:619472 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Inguinal hernia, Unilateral cryptorchidism, Decreased response to ... |
OMIM:613406 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... |
OMIM:601803 |
Alström Syndrome |
|
Dorsocervical fat pad, Decreased response to growth hormone stimulation test, Frontal balding, Te... |
ORPHA:64 |