| Pili Gemini |
|
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... |
ORPHA:79492 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
| Striate Palmoplantar Keratoderma |
|
Abnormal hair morphology, Abnormality of the nail |
ORPHA:50942 |
| Keratosis Palmoplantaris Striata Iii |
|
Abnormal hair morphology, Abnormality of the nail |
OMIM:607654 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
| Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
| Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
| Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar... |
ORPHA:2722 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
| Syringocystadenoma Papilliferum |
|
Sparse scalp hair |
ORPHA:840 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Dry skin, Sparse hair |
OMIM:617073 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... |
OMIM:212360 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse eyebrow, Sparse scalp hair, Absent eyebrow, Sparse eyelashes |
OMIM:620199 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Ectodermal Dysplasia 5, Hair/Nail Type |
|
Sparse scalp hair, Dystrophic fingernails, Absent toenail |
OMIM:614927 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Ulerythema Ophryogenesis |
|
Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Sparse lateral eyebrow |
ORPHA:3406 |
| Dermoodontodysplasia |
|
Dry skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
| Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin |
OMIM:129490 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hairy Elbows |
|
Elbow hypertrichosis |
OMIM:139600 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Palmoplantar keratoderma, Sparse hair, Dr... |
OMIM:618535 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Weight loss, Hy... |
ORPHA:317 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Sparse hair, Widow's peak, Thick eyebrow |
OMIM:606242 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Palmoplanta... |
ORPHA:2890 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia, Cachexia |
ORPHA:2574 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Ectodermal Dysplasia 8, Hair/Tooth/Nail Type |
|
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Dystrophic fing... |
OMIM:602401 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
| Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
| Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail dysplasia, Sparse bod... |
ORPHA:1660 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Scaling ski... |
ORPHA:2269 |
| Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk... |
ORPHA:530838 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair |
ORPHA:85274 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi... |
OMIM:613102 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... |
ORPHA:2228 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
| Loose Anagen Syndrome |
|
Abnormal hair morphology, Abnormal hair whorl |
ORPHA:168 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair |
OMIM:618625 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
| Classic Mycosis Fungoides |
|
Alopecia, Erythema, Skin ulcer, Hyperkeratosis, Dry skin, Abnormality of the nail |
ORPHA:2584 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail |
ORPHA:2251 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
| Huriez Syndrome |
|
Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dry skin, Abnormality of the nail |
ORPHA:384 |
| Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmoplantar kerat... |
OMIM:308800 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
| Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of... |
ORPHA:90368 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
| Anonychia With Flexural Pigmentation |
|
Anonychia, Dry skin |
OMIM:106750 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Hypertrichosis |
OMIM:617524 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Small for gestational age, Slow-growing hair, Tiger tail banding, Dry skin |
OMIM:616943 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
| Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
| Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair |
ORPHA:79402 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Pili torti, Fine hair |
ORPHA:1573 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis |
ORPHA:735 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Acquired Ichthyosis |
|
Hyperkeratosis, Erythema, Dry skin, Palmoplantar keratoderma |
ORPHA:454 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Thin nail, Sparse e... |
OMIM:257980 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
| Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
| Proliferating Trichilemmal Cyst |
|
Sparse scalp hair |
ORPHA:492 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes |
ORPHA:3363 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair |
ORPHA:1810 |
| Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair |
ORPHA:261483 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry... |
ORPHA:1028 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
| Nail Disorder, Nonsyndromic Congenital, 3 |
|
Abnormal hair morphology, Leukonychia, Concave nail |
OMIM:151600 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Lamellar Ichthyosis |
|
Lack of skin elasticity, Hyperkeratosis, Sparse hair, Dry skin, Abnormality of the nail, Aplasia/... |
ORPHA:313 |
| Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Dry skin |
OMIM:618373 |
| Familial Melanoma |
|
Abnormal hair morphology, Dry skin |
ORPHA:618 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:1883 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Sca... |
OMIM:616295 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair |
OMIM:613576 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema... |
ORPHA:1010 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
| Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin |
ORPHA:2271 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Dry skin, Cutis laxa, Hyperkeratosis, Failure to thrive, Hypertrichosis |
OMIM:612379 |
| Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
| Complex Regional Pain Syndrome |
|
Abnormality of hair growth, Erythema, Slow-growing nails, Dry skin |
ORPHA:83452 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Low posterior hairline, Premature graying of hair, Alopecia of scalp, Dry... |
ORPHA:2617 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Low posterior hairline |
ORPHA:2183 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, High anterior hairline, Dry skin, Fragile nails |
OMIM:617364 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Polyhydramnios, Dehydration |
OMIM:616069 |
| Hypotrichosis 3 |
|
Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor... |
OMIM:613981 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok... |
OMIM:614594 |
| Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Dry skin, Scaling skin |
OMIM:618084 |
| Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair |
OMIM:618681 |
| Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... |
OMIM:614941 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Sparse eyebrow, Dry skin, Onychogryposis of toenails |
OMIM:600906 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair |
OMIM:614940 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Dry skin, Sparse body hair |
ORPHA:177 |
| Copper Deficiency, Familial Benign |
|
Curly hair, Early balding |
OMIM:121270 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin |
ORPHA:461 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse pubic hair, Sparse axillary hair |
OMIM:146110 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair |
OMIM:273390 |
| Ichthyosis Vulgaris |
|
Dry skin |
OMIM:146700 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
| Scalp Defects-Postaxial Polydactyly Syndrome |
|
Sparse scalp hair |
ORPHA:1003 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Dry skin |
OMIM:617920 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ... |
OMIM:234050 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
| Leopard Syndrome 3 |
|
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin |
OMIM:613707 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairline, Nail dystrophy, Dr... |
OMIM:300860 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair |
ORPHA:59303 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Orthokeratosis, Sparse hai... |
OMIM:607626 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Dry skin, Hyperkeratosis, Failure to thrive |
OMIM:610768 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... |
ORPHA:1807 |
| Phenylketonuria |
|
Fair hair, Dry skin |
OMIM:261600 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Failure to thrive, Slow-growing hair, Trichorrhexis nodosa, Hyperkeratosi... |
ORPHA:238468 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis, Dry skin |
OMIM:612281 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
| Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Onychauxis, Dry skin, Small for gestational age, Hypertrichosis |
OMIM:262190 |
| Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Small for gestational age, Fine hair, Hyperkeratosis, Fragile nails,... |
OMIM:601675 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
| Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
| Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
| Prolidase Deficiency |
|
Abnormal fingernail morphology, Erythema, Low anterior hairline, Skin ulcer, Hyperkeratosis, Whit... |
ORPHA:742 |
| Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
| Peeling Skin Syndrome 1 |
|
Brittle hair, Onycholysis, Nail dystrophy |
OMIM:270300 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmar hyperkeratosis, Dry skin, Dystrophic f... |
OMIM:150400 |
| Harlequin Ichthyosis |
|
Hyperkeratosis, Dehydration, Erythroderma |
ORPHA:457 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
| Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
| Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Erythema, Dry skin |
ORPHA:816 |
| Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... |
ORPHA:2963 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
| Sézary Syndrome |
|
Alopecia, Dry skin, Nail dystrophy, Palmoplantar keratoderma |
ORPHA:3162 |
| Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Nail dystrophy, ... |
ORPHA:100976 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Adiposis Dolorosa |
|
Sparse pubic hair, Dry skin, Obesity, Sparse axillary hair |
ORPHA:36397 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
| Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... |
OMIM:167210 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Nail pits, Hypoplastic nipples... |
ORPHA:978 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Failure to thrive, Paronychia, Erythema, Skin... |
ORPHA:37 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Supernumerary nipple, Cachexia, Fine hair, Sparse or absent eyelashes, Nail dy... |
ORPHA:217346 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb palmop... |
ORPHA:79395 |
| Leopard Syndrome 2 |
|
Curly hair, Dry skin |
OMIM:611554 |
| Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Dry skin |
ORPHA:1954 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Reticular Dysgenesis |
|
Skin rash, Dehydration |
ORPHA:33355 |
| Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
| Familial Cold Urticaria |
|
Pruritus, Dehydration |
ORPHA:47045 |
| Androgen Insensitivity Syndrome |
|
Sparse pubic hair, Absent facial hair, Sparse axillary hair |
OMIM:300068 |
| Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Dry ski... |
ORPHA:634 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P... |
OMIM:129400 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:617571 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Decreased number of sweat glands, Punctate palmoplantar hyperkeratosis,... |
ORPHA:69087 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Scaling skin... |
OMIM:607602 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
| Filippi Syndrome |
|
Sparse hair, Frontal hirsutism, Hypertrichosis |
OMIM:272440 |
| Distal Duplication 6P |
|
Abnormal eyelash morphology, Fine hair, Dry skin, Abnormal hair quantity |
ORPHA:1745 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... |
OMIM:300953 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
| Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Dry skin |
OMIM:268020 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Dry skin, Increased body weight |
OMIM:614450 |
| Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... |
ORPHA:140936 |
| Noonan Syndrome 5 |
|
Curly hair, Large for gestational age, Sparse eyebrow, Fine hair, Small nail, Dry skin |
OMIM:611553 |
| Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Small nail |
OMIM:617396 |
| Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Orthokeratosis |
OMIM:607936 |
| Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Small nail, Dry skin |
OMIM:619075 |
| Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia |
OMIM:615821 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Dry skin, Long eyelashes, Obesity |
OMIM:620191 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
| Acrogeria |
|
Fine hair |
ORPHA:2500 |
| Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
| Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Perianal erythema, Paronychia, Alopecia of scalp, Perioral erythema, Dry skin |
OMIM:201100 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration |
OMIM:618958 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair |
ORPHA:3051 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma |
OMIM:615024 |
| Jung Syndrome |
|
Dry skin, Low posterior hairline |
ORPHA:2321 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
| Central Diabetes Insipidus |
|
Dehydration |
ORPHA:178029 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
| Radio-Tartaglia Syndrome |
|
Thick eyebrow, Striae distensae, Highly arched eyebrow, Long eyebrows, Synophrys, Low anterior ha... |
OMIM:619312 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
| Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
| Weaver Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair |
ORPHA:3447 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
| Omenn Syndrome |
|
Failure to thrive, Alopecia, Dry skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Hyperkeratosis, Erythema, Dry skin, Scaling skin |
OMIM:614457 |
| Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair |
ORPHA:1520 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Dry skin, Broad eyebrow |
OMIM:619244 |
| Squalene Synthase Deficiency |
|
Dry skin, Failure to thrive in infancy, Abnormality of hair pigmentation |
OMIM:618156 |
| Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
| Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
| Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... |
ORPHA:2930 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
| Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair |
OMIM:300869 |
| 2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
| Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
| Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... |
ORPHA:1787 |
| Morm Syndrome |
|
Hyperactivity, Cataract, Aggressive behavior |
ORPHA:75858 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
| Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Failure to thrive, Dry skin, Scaling skin |
OMIM:609180 |
| Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
| Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Sparse hair, Synophrys, Thick eyebrow |
OMIM:611091 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair |
OMIM:616351 |
| Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Dry skin, Nail pits, Hypoplast... |
OMIM:103285 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin |
ORPHA:2101 |
| Even-Plus Syndrome |
|
Sparse hair, Synophrys, Highly arched eyebrow |
OMIM:616854 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Redundant skin, Failure to thrive in infancy, Abnormal eyelash m... |
ORPHA:1340 |
| Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Noonan Syndrome 6 |
|
Sparse hair, Curly hair, Long eyebrows, Low posterior hairline |
OMIM:613224 |
| Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin |
OMIM:612952 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp |
OMIM:615280 |
| Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
| Tangier Disease |
|
Dry skin, Nail dystrophy, Nail dysplasia |
OMIM:205400 |
| Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair |
OMIM:610756 |
| Hatipoglu Immunodeficiency Syndrome |
|
Fair hair, Dry skin, Premature graying of hair, Failure to thrive, Petechiae |
OMIM:620331 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Sparse hair, Abnormal hair whorl |
ORPHA:2872 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin, Obesity |
ORPHA:1035 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Sparse eyebrow, Dry skin, Nail dysplasia, Sparse hair, Failure to thrive |
OMIM:613026 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Dry skin, Obesity |
ORPHA:3085 |
| Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis |
OMIM:604117 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology |
ORPHA:3082 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Ddost-Cdg |
|
Failure to thrive, Dry skin |
ORPHA:300536 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Dry skin |
OMIM:618282 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Dry skin, Aplasia of the sweat glands, Sparse hair, Failure to thrive |
OMIM:612132 |
| Usher Syndrome Type 3 |
|
Cataract, Iris hypopigmentation, Astigmatism, Depression |
ORPHA:231183 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
| Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
| Microvillus Inclusion Disease |
|
Pruritus, Dehydration |
ORPHA:2290 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Thrombocytopenia |
ORPHA:848 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Sparse body hair |
ORPHA:2234 |
| Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hyperkeratosis, Neonatal death |
OMIM:620014 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair |
OMIM:616559 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair |
OMIM:605676 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration |
ORPHA:79312 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
| Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
| Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Trichiasis, Hyperkeratosis, Nail dysplasia, Trichodysplasia, Dry skin |
OMIM:601701 |
| Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
| Autosomal Agammaglobulinemia |
|
Recurrent skin infections, Skin rash, Dehydration |
ORPHA:33110 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
| Noonan Syndrome 13 |
|
Highly arched eyebrow, Low posterior hairline, Dry skin, Generalized hirsutism, Broad eyebrow, Hy... |
OMIM:619087 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the... |
ORPHA:3353 |
| Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
| Cardiofaciocutaneous Syndrome 3 |
|
Curly hair |
OMIM:615279 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Low anterior hairline, Horizontal eyebrow, High anterior hairline, Dry skin, Thick eyebrow |
OMIM:618797 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow |
ORPHA:884 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Fine hair |
ORPHA:1806 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
| Hall-Riggs Syndrome |
|
Coarse hair, Slow-growing hair, Thick hair |
ORPHA:2107 |
| Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes |
ORPHA:2316 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair |
OMIM:620001 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Dehydration |
OMIM:214150 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
| Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Dry skin |
OMIM:275100 |
| Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail |
OMIM:268130 |
| Fanconi Anemia, Complementation Group S |
|
Sparse hair, Long eyelashes, Low anterior hairline |
OMIM:617883 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratoderma, Sparse ... |
ORPHA:659 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline |
OMIM:619320 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
| 46,Xy Sex Reversal 6 |
|
Hirsutism, Sparse axillary hair |
OMIM:613762 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... |
ORPHA:3253 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Skin ulcer, Hyperkeratosis, Onycholysis |
ORPHA:525 |
| Bazex Syndrome |
|
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy |
ORPHA:166113 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... |
ORPHA:163654 |
| Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, High anterior hairline |
ORPHA:284180 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
| Recon Progeroid Syndrome |
|
Hyperconvex thumb nails, Absent lower eyelashes, Scaling skin, Dry skin, Hirsutism |
OMIM:620370 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Fragile nails |
OMIM:242150 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Erythrod... |
OMIM:256500 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Fine hair |
OMIM:616817 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin |
OMIM:613990 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
| Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin |
OMIM:614099 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Pustule, Atopic dermatitis, Dehydration |
ORPHA:171876 |
| Thyroid Dyshormonogenesis 1 |
|
Dry skin |
OMIM:274400 |
| Xeroderma Pigmentosum Variant |
|
Dry skin |
ORPHA:90342 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
| Carnitine Deficiency, Systemic Primary |
|
Dehydration |
OMIM:212140 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
| Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis |
OMIM:602723 |
| Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
| Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Low posterior hairline, Sparse hair, Dry skin |
OMIM:619745 |
| Propionic Acidemia |
|
Eczema, Dehydration |
OMIM:606054 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis, Failure to thrive, Dry skin |
OMIM:614576 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Eczema, Chronic mucocutaneous candidiasis, Pedal edema, Nail dystrophy, Sparse hai... |
ORPHA:98813 |
| Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Sparse hair |
OMIM:616200 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Nail dystrophy, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
| Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
| Atelis Syndrome 1 |
|
Dry skin |
OMIM:620184 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Hyperkeratosis, Parakeratosis, Dry skin |
OMIM:618527 |
| Tonne-Kalscheuer Syndrome |
|
Concave nail, Small nail, Fine hair |
OMIM:300978 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Fetal Hydantoin Syndrome |
|
Coarse hair, Hypoplastic fingernail, Low posterior hairline |
ORPHA:1912 |
| Peroxisome Biogenesis Disorder 14B |
|
Dry skin |
OMIM:614920 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Dehydration |
OMIM:560000 |
| Joubert Syndrome 37 |
|
Sparse hair |
OMIM:619185 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia |
OMIM:617763 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Small for gestational age, Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsw... |
OMIM:618419 |
| Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Supernumerary nipple, Aplastic/hypoplastic toenail, Fine hair, Dry skin, Aplasia/Hypoplasia of th... |
ORPHA:1812 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection |
OMIM:158310 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N... |
ORPHA:79151 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Coarse hair, Brittle hair, Abnormality of hair texture |
OMIM:219200 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Thick eyebrow |
ORPHA:127 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H... |
OMIM:308300 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair |
OMIM:614105 |
| Agel Amyloidosis |
|
Sparse hair, Dry skin, Nail dystrophy, Cutis laxa |
ORPHA:85448 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... |
OMIM:106260 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Aplasia of the eccrine sweat glands |
OMIM:300291 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Failure to thrive, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
OMIM:614008 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Hyperconvex nail |
OMIM:619721 |
| Bone Marrow Failure Syndrome 4 |
|
Dry skin |
OMIM:618116 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair |
OMIM:618253 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Sparse hair, Synophrys, Low anterior hairline, Fine hair |
ORPHA:391408 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
| Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Dry skin, Large for gestational age |
ORPHA:226313 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Fine hair |
OMIM:619428 |
| Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera... |
ORPHA:678 |
| 9P13 Microdeletion Syndrome |
|
Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenails, Dry skin, Thick eyebrow |
ORPHA:324313 |
| Ameloonychohypohidrotic Syndrome |
|
Dry skin, Onycholysis |
OMIM:104570 |
| Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
| Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
| Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
| Atopic Keratoconjunctivitis |
|
Loss of eyelashes, Dry skin |
ORPHA:163934 |
| Juvenile Dermatomyositis |
|
Alopecia, Erythema, Skin ulcer, Weight loss, Dry skin |
ORPHA:93672 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri... |
ORPHA:920 |
| Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Low posterior hairline |
OMIM:613174 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair |
OMIM:618810 |
| Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair, Trichorrhexis nodosa |
OMIM:616395 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
| Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
| Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
| Sheehan Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Obesity, Pallor, Dry skin, Breast hypoplasia |
ORPHA:91355 |
| Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration |
OMIM:251000 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
| Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Acantholysis, Orthokeratosis, Palmoplantar keratoderma, Sparse hair, Failure to thrive |
OMIM:615508 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Failure to thrive in infancy, Nail dystrophy, Hypoplastic nipples, Small nail, Dry skin |
ORPHA:261323 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Truncal obesity, Dry skin, Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:2637 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Widow's peak, Obesity, Decreased body weight, Dry skin, Thick eyebrow |
OMIM:619229 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Dry skin, Abnormality of hair texture |
ORPHA:96169 |
| Barber-Say Syndrome |
|
Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterio... |
OMIM:209885 |
| Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
| Cystinosis |
|
Dehydration |
ORPHA:213 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology |
ORPHA:1005 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Failure to thrive, Skin rash, Pustule, Nail dystrophy, Periungual ... |
OMIM:615934 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Fine hair, Sparse... |
OMIM:234100 |
| Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
| Koolen-De Vries Syndrome |
|
Fair hair, Small for gestational age, Abnormality of hair texture, Dry skin, Failure to thrive |
OMIM:610443 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Dehydration, Oligohydramnios |
OMIM:208085 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline |
OMIM:250410 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Dry skin |
ORPHA:95715 |
| Noonan Syndrome 8 |
|
Curly hair |
OMIM:615355 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair |
OMIM:614091 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
| Eec Syndrome |
|
Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Hyperkeratosis, Coarse hair, Nail dystro... |
ORPHA:1896 |
| Alg11-Cdg |
|
Failure to thrive, Dry skin |
ORPHA:280071 |
| Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture |
ORPHA:2752 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair |
OMIM:127550 |
| Rabson-Mendenhall Syndrome |
|
Thick hair, Onychauxis, Low anterior hairline, Premature graying of hair, Dry skin, Hirsutism, Hy... |
ORPHA:769 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
| Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Dry skin, Tiger tail band... |
ORPHA:33364 |
| Scarf Syndrome |
|
Sparse hair, Hypoplastic nipples, Low posterior hairline |
ORPHA:3134 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Sparse hair, Dry skin, Small for gestational age, Thin nail |
OMIM:617799 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Dry skin, Abnormal fingernail morphology, Abnormality of the nail |
ORPHA:428 |
| Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
| Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Concave nail, Abnormal hair morphology, Hypoplast... |
ORPHA:3071 |
| Osteogenesis Imperfecta, Type Xx |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
| Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
| Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
| Secondary Short Bowel Syndrome |
|
Dehydration |
ORPHA:95427 |
| Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Small for gestational age, Uncombable hair, Woolly hair, ... |
ORPHA:84064 |
| Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Hypoplastic fingernail |
ORPHA:2457 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
| Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair |
OMIM:219150 |
| Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow |
ORPHA:1394 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Long eyelashes, Fine hair |
OMIM:620250 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
| Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Fine hair |
OMIM:614438 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Sparse body hair |
ORPHA:3068 |
| Wolcott-Rallison Syndrome |
|
Ascites, Dehydration |
ORPHA:1667 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration |
OMIM:616271 |
| Xeroderma Pigmentosum |
|
Alopecia, Erythema, Dry skin, Hyperkeratosis, Failure to thrive |
ORPHA:910 |
| Refsum Disease |
|
Dry skin, Nail dysplasia |
ORPHA:773 |
| Multiple Sulfatase Deficiency |
|
Coarse hair, Thick eyebrow |
ORPHA:585 |
| Smith-Kingsmore Syndrome |
|
Curly hair |
OMIM:616638 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
| Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Dry skin, Sparse axillary hair, Weight loss |
ORPHA:95409 |
| Noonan Syndrome 7 |
|
Curly hair, Low posterior hairline |
OMIM:613706 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
| Norrie Disease |
|
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... |
OMIM:310600 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Low posterior hairline, Nail dystrophy, Dr... |
ORPHA:163956 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail |
ORPHA:974 |
| Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Abnormal hair pattern |
ORPHA:1786 |
| Beta-Ketothiolase Deficiency |
|
Edema, Dehydration |
ORPHA:134 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Macrocephaly/Autism Syndrome |
|
Coarse hair |
OMIM:605309 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Follicular hyperkeratosis, Sparse hair, F... |
ORPHA:158668 |
| Fucosidosis |
|
Failure to thrive, Dry skin, Petechiae, Thick eyebrow |
OMIM:230000 |
| Ogden Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
| Scarf Syndrome |
|
Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline |
OMIM:312830 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... |
OMIM:181270 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
| Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Trichorrhexis nodosa |
OMIM:207900 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypertonic dehydration |
OMIM:125800 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypertonic dehydration |
OMIM:304800 |
| Methylmalonic Aciduria, Cblb Type |
|
Dehydration |
OMIM:251110 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Thick hair, Redundant skin, Cutis laxa, Excessive wrinkled skin, Coarse hair... |
ORPHA:357074 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Fine hair |
OMIM:614800 |
| Hydroxykynureninuria |
|
Dry skin |
ORPHA:79155 |
| Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
| Osteootohepatoenteric Syndrome |
|
Pruritus, Dehydration |
OMIM:619377 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Perianal erythema, Subungual hyperkeratosis, Absent ... |
OMIM:308205 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair |
ORPHA:457485 |
| Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... |
ORPHA:69085 |
| Macs Syndrome |
|
Alopecia, Redundant skin, Sparse eyebrow, Cutis laxa, Decreased body weight, Sparse hair |
OMIM:613075 |
| Wagro Syndrome |
|
Cataract, Corneal opacity, Aggressive behavior, Agitation, Low frustration tolerance, Compulsive ... |
OMIM:612469 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:612199 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair |
OMIM:236200 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Irritability, Cataract |
OMIM:146200 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Fine hair |
OMIM:618891 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Large for gestational age, Palmoplantar hyperkeratosis, Fine hair, Hypopla... |
OMIM:280000 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Polyhydramnios, Edema, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse ha... |
OMIM:302960 |
| Hajdu-Cheney Syndrome |
|
Failure to thrive, Abnormal fingernail morphology, Synophrys, Low anterior hairline, Skin ulcer, ... |
ORPHA:955 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Low anterior hairline, F... |
ORPHA:235 |
| Septo-Optic Dysplasia Spectrum |
|
Dry skin, Obesity |
ORPHA:3157 |
| Complete Androgen Insensitivity Syndrome |
|
Sparse pubic hair, Absent axillary hair, Sparse axillary hair, Absent pubic hair |
ORPHA:99429 |
| Cockayne Syndrome B |
|
Dry hair, Failure to thrive, Small for gestational age, Abnormal hair morphology, Severe failure ... |
OMIM:133540 |
| Renal Hypoplasia |
|
Dehydration |
ORPHA:93101 |
| Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Dry skin, Weight loss |
OMIM:619487 |
| Chand Syndrome |
|
Curly hair, Dry skin, Nail dysplasia |
ORPHA:1401 |
| Chops Syndrome |
|
Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow |
OMIM:616368 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
| Noonan Syndrome 4 |
|
Sparse eyebrow, Curly hair, High anterior hairline |
OMIM:610733 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Sparse pubic hair, Sparse axillary hair |
OMIM:228300 |
| Dermatomyositis |
|
Abnormal hair quantity, Erythema, Skin ulcer, Weight loss, Dry skin, Abnormality of the nail |
ORPHA:221 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis |
ORPHA:363618 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Sparse pubic hair, Sparse axillary hair, Bilateral breast hypoplasia |
ORPHA:52901 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Dry skin, Cachexia |
OMIM:610965 |
| Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... |
OMIM:608156 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... |
ORPHA:2108 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Low anterior hairline |
OMIM:618569 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Dry skin |
ORPHA:99832 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Sca... |
ORPHA:2526 |
| Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Redundant skin, Absent eyelashes, Hypoplastic nipples, Sparse hair, Premature ski... |
OMIM:200110 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Anonychia, Small... |
OMIM:263650 |
| Marshall Syndrome |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
ORPHA:560 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism |
OMIM:212066 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hirsutism |
OMIM:617303 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair, Decreased body weight, Cutis laxa, Dermal translucency |
OMIM:615349 |
| Methylmalonic Aciduria, Cbla Type |
|
Dehydration |
OMIM:251100 |
| Diamond-Blackfan Anemia 21 |
|
Synophrys, Coarse hair, Horizontal eyebrow, Widow's peak |
OMIM:620072 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Edema, Dehydration |
ORPHA:20 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline |
OMIM:617360 |
| Hamamy Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... |
OMIM:611174 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:222470 |
| Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair, Dry skin |
ORPHA:565 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair |
OMIM:616449 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... |
OMIM:230740 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
| Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Coarse hair, Sparse hair, Dry skin |
ORPHA:2750 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:85201 |
| Addison Disease |
|
Failure to thrive, Dry skin, Sparse axillary hair, Weight loss |
ORPHA:85138 |
| Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long eyelashes, Thin eyebrow, ... |
OMIM:615485 |
| Goldberg-Shprintzen Syndrome |
|
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow |
OMIM:609460 |
| Teebi-Shaltout Syndrome |
|
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair |
OMIM:272950 |
| Glass Syndrome |
|
Sparse hair, Long eyelashes, Nail dysplasia |
OMIM:612313 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
OMIM:607812 |
| Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Dry skin, Weight loss |
ORPHA:199299 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture |
ORPHA:79351 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:90791 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
| Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Sparse ha... |
ORPHA:2710 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Coarse hair, Nail dysplasia |
OMIM:612394 |
| Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
| Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
| Cholera |
|
Dehydration |
ORPHA:173 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail |
OMIM:614813 |
| Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... |
ORPHA:100924 |
| Tangier Disease |
|
Dry skin, Nail dystrophy |
ORPHA:31150 |
| Down Syndrome |
|
Sparse hair |
ORPHA:870 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy |
ORPHA:436252 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping |
OMIM:617101 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Small for gestational age, Facial wrinkling, Dry skin, Sparse hair, Failure to... |
OMIM:606721 |
| Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse... |
OMIM:617506 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Cachexia |
ORPHA:220295 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Sparse hair |
OMIM:607721 |
| Cockayne Syndrome A |
|
Sparse hair, Failure to thrive, Dry hair, Dry skin |
OMIM:216400 |
| Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
| Oligomeganephronia |
|
Dehydration |
ORPHA:2260 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Fine hair |
OMIM:616202 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Trisomy 20P |
|
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... |
ORPHA:261318 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Breast aplasia |
ORPHA:2036 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo... |
OMIM:304110 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Schimke Immunoosseous Dysplasia |
|
Coarse hair, Fine hair |
OMIM:242900 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Bone Marrow Failure Syndrome 3 |
|
Sparse hair, Small nail, Nail dystrophy, Aplasia/Hypoplasia of the eyebrow |
OMIM:617052 |
| Cerebellar-Facial-Dental Syndrome |
|
Sparse hair, Sparse eyebrow, Fine hair |
ORPHA:444072 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Sparse hair |
OMIM:115150 |
| Mucopolysaccharidosis, Type Iiid |
|
Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow |
OMIM:252940 |
| Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... |
ORPHA:1775 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Failure to thrive, Sparse eyelashes, Sparse eyebrow, Fine hair, Hyperkeratosis... |
OMIM:210710 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Failure to thrive, Small for gesta... |
OMIM:264090 |
| Weaver Syndrome |
|
Sparse hair, Thin nail, Deep-set nails, Fine hair |
OMIM:277590 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Fine hair |
ORPHA:251028 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair |
OMIM:614114 |
| Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Sparse hair, Abno... |
ORPHA:2909 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sparse hair |
OMIM:616541 |
| Monosomy 22 |
|
Sparse hair, Synophrys |
ORPHA:96123 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Dry skin |
ORPHA:90674 |
| Shigellosis |
|
Dehydration |
ORPHA:810 |
| 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 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Sparse hair, Fine hair, Highly arched eyebrow, Low posterior hairline |
OMIM:613563 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrops fetalis, Dehydration |
ORPHA:79282 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Sparse body hair, Breast hypoplasia |
ORPHA:432 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Long ... |
OMIM:601358 |
| Alternating Hemiplegia Of Childhood |
|
Dehydration |
ORPHA:2131 |
| Lysosomal Acid Lipase Deficiency |
|
Pruritus, Ascites, Dehydration |
ORPHA:275761 |
| Kanzaki Disease |
|
Hyperkeratosis, Dry skin, Petechiae |
OMIM:609242 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Failure to thrive, S... |
OMIM:619503 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polyhydramnios |
ORPHA:223 |
| Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Dehydration |
OMIM:557000 |
| Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Woolly hair, Thoracic hy... |
OMIM:618268 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sparse hair, Synophrys, Toenail dysplasia, Hirsutism |
OMIM:300966 |
| White-Sutton Syndrome |
|
Sparse hair |
OMIM:616364 |
| 2P15P16.1 Microdeletion Syndrome |
|
Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair |
ORPHA:261349 |
| Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair |
OMIM:300661 |
| Opitz-Kaveggia Syndrome |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:305450 |
| Lysinuric Protein Intolerance |
|
Sparse hair, Fine hair |
OMIM:222700 |
| Infantile Nephropathic Cystinosis |
|
Dehydration |
ORPHA:411629 |
| Pyruvate Carboxylase Deficiency |
|
Dehydration |
ORPHA:3008 |
| Mucopolysaccharidosis, Type Vii |
|
Coarse hair, Thick eyebrow, Hirsutism |
OMIM:253220 |
| Neuroleptic Malignant Syndrome |
|
Dehydration |
ORPHA:94093 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
| Uremic Pruritus |
|
Dry skin |
ORPHA:94059 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Dehydration, Oligohydramnios |
ORPHA:96191 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair |
OMIM:619934 |
| Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Facial erythema, Sparse or a... |
ORPHA:221008 |
| Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Erythema, Facial erythema, S... |
ORPHA:221016 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
| Adrenomyeloneuropathy |
|
Frontal balding, Fine hair |
ORPHA:139399 |
| De Barsy Syndrome |
|
Cutis laxa, Excessive wrinkled skin, Sparse hair, Failure to thrive, Dermal translucency |
ORPHA:2962 |
| Noonan Syndrome 10 |
|
Sparse eyebrow, Curly hair |
OMIM:616564 |
| Lateral Meningocele Syndrome |
|
Coarse hair |
OMIM:130720 |
| Noonan Syndrome 2 |
|
Sparse eyebrow, Curly hair, Low posterior hairline |
OMIM:605275 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
| Kaufman Oculocerebrofacial Syndrome |
|
Sparse hair, Sparse eyebrow |
OMIM:244450 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dry skin |
OMIM:619306 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... |
ORPHA:124 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Redundant skin in infancy, Dry skin, Cutis laxa, Fragile nails, Sparse hair, A... |
OMIM:150230 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:168558 |
| 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 |
| Helix Syndrome |
|
Dry skin |
OMIM:617671 |
| Premature Aging Syndrome, Penttinen Type |
|
Sparse hair, Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis |
OMIM:601812 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:289548 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
| Distal Renal Tubular Acidosis |
|
Dehydration |
ORPHA:18 |
| Noonan Syndrome 1 |
|
Woolly hair, Dry skin, Failure to thrive in infancy, Low posterior hairline |
OMIM:163950 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99885 |
| Chime Syndrome |
|
Sparse hair, Fine hair |
ORPHA:3474 |
| Vipoma |
|
Ascites, Dehydration |
ORPHA:97282 |
| Pearson Syndrome |
|
Corneal stromal edema, Hydrops fetalis, Dehydration |
ORPHA:699 |
| Neurocardiofaciodigital Syndrome |
|
Sparse hair, Sparse eyebrow |
OMIM:619869 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pyoderma, Recurrent skin infections, Edema, Dehydration |
ORPHA:79404 |
| Lead Poisoning |
|
Anorexia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Depression, Attention defi... |
ORPHA:330015 |
| Juvenile Nephropathic Cystinosis |
|
Dehydration |
ORPHA:411634 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Joint swelling, Dehydration |
ORPHA:534 |
| Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Thin nail, Short nail, Fine hair, Sparse hair |
OMIM:218330 |
| Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Synophrys, Hypoplastic sweat glands, Thick eyebrow, Abnormality of hair texture |
ORPHA:73223 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Dry skin |
ORPHA:508542 |
| Bartter Syndrome Type 4 |
|
Polyhydramnios, Dehydration |
ORPHA:89938 |
| Microsporidiosis |
|
Dehydration |
ORPHA:2552 |
| Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypertrichosis |
OMIM:602535 |
| Noonan Syndrome |
|
Abnormal hair quantity, Coarse hair, Low posterior hairline |
ORPHA:648 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Sparse hair, Nail dysplasia |
OMIM:616682 |
| Immunodeficiency 55 |
|
Dry skin |
OMIM:617827 |
| Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
| Stuve-Wiedemann Syndrome 1 |
|
Sparse hair |
OMIM:601559 |
| Bartter Syndrome, Type 1, Antenatal |
|
Polyhydramnios, Dehydration |
OMIM:601678 |
| Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Brittle hair, Sparse hair |
OMIM:252500 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Mucolipidosis Type Ii |
|
Dry hair, White hair, Fine hair |
ORPHA:576 |
| Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Hyperkeratosis, Acral ulcer... |
ORPHA:548 |
| Marburg Hemorrhagic Fever |
|
Skin rash, Maculopapular exanthema, Dehydration |
ORPHA:99826 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... |
ORPHA:444077 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Abnormal hemoglobin, Anemia, Depression |
ORPHA:847 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Sparse pubic hair, Sparse body hair, Sparse axillary hair |
ORPHA:90796 |
| Cartilage-Hair Hypoplasia |
|
Sparse hair, Sparse eyebrow |
ORPHA:175 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture |
ORPHA:667 |
| Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
| Cystic Fibrosis |
|
Dehydration |
OMIM:219700 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,... |
ORPHA:2273 |
| Cystinosis, Nephropathic |
|
Dehydration |
OMIM:219800 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Dehydration |
OMIM:241200 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Failure to thrive, Abnormal hair morphology, Abnormal hair whor... |
ORPHA:79474 |
| Mucopolysaccharidosis Type 3 |
|
Thick hair, Synophrys, Coarse hair, Generalized hirsutism, Hirsutism |
ORPHA:581 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Sparse hair |
OMIM:151050 |
| Proximal Renal Tubular Acidosis |
|
Dehydration |
ORPHA:47159 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Myhre Syndrome |
|
Sparse hair, Thick eyebrow, Fine hair |
OMIM:139210 |
| Occipital Horn Syndrome |
|
Coarse hair, Pili torti |
OMIM:304150 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Sparse hair |
OMIM:620005 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails |
OMIM:218040 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Sparse eyebrow, Nail dystrophy, Hypoplastic nipples, Small nail, Sparse hair |
OMIM:620186 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sparse hair, Nail dystrophy, Sparse eyebrow |
OMIM:619127 |
| Restrictive Dermopathy |
|
Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl... |
ORPHA:1662 |
| Melnick-Needles Syndrome |
|
Coarse hair, Frontal hirsutism |
OMIM:309350 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Renpenning Syndrome 1 |
|
Sparse hair, Brittle hair, Sparse lateral eyebrow |
OMIM:309500 |
| Roberts Syndrome |
|
Sparse hair |
ORPHA:3103 |
| Multiple Endocrine Neoplasia Type 1 |
|
Dehydration |
ORPHA:652 |
| Primary Sjögren Syndrome |
|
Dry skin, Skin ulcer, Purpura |
ORPHA:289390 |
| Aicardi-Goutières Syndrome |
|
Dry skin |
ORPHA:51 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Acne, Dehydration |
ORPHA:90794 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior hairline, Long ... |
OMIM:619841 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Abnormal repetitive mannerisms, HbH hemoglobin, Hypochromic m... |
OMIM:301040 |
| Cranioectodermal Dysplasia 2 |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:613610 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Absent nipple, Synophrys, Low anterior hairline, Low posterior hairline, Coars... |
OMIM:612289 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip... |
OMIM:305600 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, High anterior hairline, Th... |
OMIM:619950 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Dry skin |
OMIM:218700 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Eczema, Polyhydramnios, Obesity, Sparse hair, Frontal hirsutism, Failure to thrive |
OMIM:617157 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow |
ORPHA:2636 |
| Blau Syndrome |
|
Erythema, Dry skin, Skin ulcer |
ORPHA:90340 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... |
OMIM:105650 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Aplasia of the sweat glands, Dry skin |
ORPHA:642 |
| Distal Deletion 12Q |
|
Small nail, Fine hair |
ORPHA:96149 |
| Wrinkly Skin Syndrome |
|
Redundant skin, Short nail, Neonatal wrinkled skin of hands and feet, Palmoplantar cutis laxa, Sp... |
OMIM:278250 |
| Cockayne Syndrome Type 3 |
|
Premature graying of hair, Dry hair |
ORPHA:90324 |
| Zttk Syndrome |
|
Sparse eyebrow, Curly hair, Broad eyebrow |
OMIM:617140 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair |
OMIM:124000 |
| Occipital Horn Syndrome |
|
Coarse hair, Thick hair |
ORPHA:198 |
| Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Lumbosacral hirsutism, Long eyelashes,... |
OMIM:135900 |
| Exercise-Induced Malignant Hyperthermia |
|
Dry skin |
ORPHA:466650 |
| Coffin-Lowry Syndrome |
|
Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow |
OMIM:303600 |
| Wrinkly Skin Syndrome |
|
Excessive skin wrinkling on dorsum of hands and fingers, Cutis laxa, Excessive wrinkled skin, Spa... |
ORPHA:2834 |
| Menke-Hennekam Syndrome 1 |
|
Sparse hair, Long eyelashes, Thick eyebrow |
OMIM:618332 |
| Neuroocular Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e... |
OMIM:619539 |
| Alzahrani-Kuwahara Syndrome |
|
Dry skin |
OMIM:619268 |
| Plague |
|
Dry skin, Skin ulcer |
ORPHA:707 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coarse hair |
ORPHA:83617 |
| Ogden Syndrome |
|
Sparse eyebrow, Long eyelashes, Fine hair |
OMIM:300855 |
| Cockayne Syndrome |
|
Dry hair, Fine hair |
ORPHA:191 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Low posterior hairline, Premature graying of hair, White forelock, Sparse h... |
OMIM:113620 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Synophrys, Aplasia/Hypoplasia of the nails, Sparse hair, Premature skin wrinkl... |
ORPHA:3455 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Failure to thrive, Dry skin |
ORPHA:99646 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Hypoplastic nipples, Hypertrichosis |
ORPHA:480880 |
| Primrose Syndrome |
|
Sparse scalp hair, Absent facial hair, Synophrys, Absent axillary hair, Dystrophic fingernails, S... |
OMIM:259050 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Hyperconvex nail, Fine hair, High anterior hairline, Fragile nails |
OMIM:613406 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sparse eyebrow, Curly hair, Broad lateral eyebrow |
ORPHA:500150 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair tex... |
ORPHA:286 |
| Liver Disease, Severe Congenital |
|
Dry hair, Nail dystrophy |
OMIM:619991 |
| Roberts-Sc Phocomelia Syndrome |
|
Sparse hair |
OMIM:268300 |
| Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... |
OMIM:601803 |
| Alström Syndrome |
|
Frontal balding, Hirsutism, Fine hair |
ORPHA:64 |
