Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Transcobalamin Deficiency |
|
Decreased circulating IgG level, Abnormality of chromosome stability, Pancytopenia, Decreased cir... |
ORPHA:859 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Witkop Syndrome |
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Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
N Syndrome |
|
Cryptorchidism, Leukemia, Abnormality of chromosome stability |
OMIM:310465 |
Fanconi Anemia, Complementation Group T |
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Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Chromosomal breakage induced by crosslink... |
OMIM:616435 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Hypopigmentation of hair, Decreased circulating antibody lev... |
ORPHA:100 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Immunodeficiency 54 |
|
Chromosome breakage, Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... |
OMIM:609981 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Ectodermal Dysplasia 6, Hair/Nail Type |
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Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Fanconi Anemia, Complementation Group S |
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Chromosome breakage, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, ... |
OMIM:617883 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Fanconi Anemia, Complementation Group V |
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Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow hypocellularit... |
OMIM:617243 |
Ectodermal Dysplasia 9, Hair/Nail Type |
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Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Chromo... |
OMIM:605724 |
Atrichia With Papular Lesions |
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Sparse hair |
OMIM:209500 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
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Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Pancreatic steatosis,... |
OMIM:617052 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Aplastic anemia, Nail pits, Fine hair, Bone marrow hypocellu... |
OMIM:268130 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormality of chromosome stability, Cryptorchidism, Leukocytosis, Lo... |
ORPHA:99812 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Nail dystrophy, ... |
OMIM:620133 |
Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Long eyebrows, Cryptorchidism, L... |
OMIM:275400 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Sparse hair, Widow's peak, Thick eyebrow |
OMIM:606242 |
Woolly Hair, Autosomal Recessive 3 |
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Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... |
ORPHA:59303 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Nail dystrophy, Anonychia, Sparse body hair, Anemia |
ORPHA:79402 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Icf Syndrome |
|
Abnormality of chromosome stability, Abnormality of neutrophils, Decreased circulating antibody l... |
ORPHA:2268 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, ... |
ORPHA:3363 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... |
ORPHA:98813 |
Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Sparse body hair |
ORPHA:85274 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Reticulocytope... |
OMIM:600901 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Cryptorchidism... |
OMIM:210900 |
Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... |
OMIM:278760 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Reticulocytope... |
OMIM:227645 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Reticulocytope... |
OMIM:227650 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Fanconi Anemia, Complementation Group R |
|
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism |
OMIM:300624 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Chromosome breakage |
OMIM:613390 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Aplas... |
ORPHA:2930 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail |
ORPHA:2251 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Fine hair |
ORPHA:1174 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Cryptorchidism, Increased... |
ORPHA:33364 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... |
ORPHA:202 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair |
OMIM:618625 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Biliary atresia, Bone marrow hypocellularity |
OMIM:615272 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Decreased testicular size, Sparse body hair |
ORPHA:261483 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Anemia |
OMIM:613951 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Chromosomal b... |
OMIM:609053 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Cryptorchidism, Thrombocytopenia, Chromosomal breakage induced by crosslinking agen... |
OMIM:227646 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopenia, Chromoso... |
OMIM:603467 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptorchidism, Long eye... |
ORPHA:3051 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Follicular hyperplasia, Increased circulating IgA level, Paratrach... |
OMIM:615934 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Nail pits, Hepatic necrosis, Anemia, Leukopenia, Prematur... |
OMIM:127550 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Chronic decreased circulating IgG1, Reduced hair... |
OMIM:300953 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Filippi Syndrome |
|
Sparse hair, Cryptorchidism, Frontal hirsutism, Hypertrichosis |
OMIM:272440 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28, Elevated circulating growth hormone concen... |
ORPHA:85327 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Decreased circulating antibody level, Sparse hair, Sparse body hair,... |
ORPHA:1006 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellula... |
OMIM:614083 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of chromosome stability, Sparse eyebrow, Abnormality of the pancreas, D... |
ORPHA:175 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Chronic hepatitis, Uncombable hair, Cirrhosis, Sparse hair, Woolly ha... |
OMIM:614602 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome ... |
ORPHA:647 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair |
OMIM:618535 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairli... |
OMIM:613224 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Cryptorchidism |
OMIM:273390 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm |
ORPHA:50944 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Sparse facial hair, Absent facial hair, Low posterior hairline |
ORPHA:2183 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... |
ORPHA:1807 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair |
ORPHA:1810 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... |
OMIM:250250 |
Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair |
ORPHA:1660 |
Fg Syndrome 3 |
|
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste... |
ORPHA:69735 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair |
OMIM:620075 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... |
OMIM:234050 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Decreased testicular size, Fine hair |
ORPHA:251019 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Thrombocytopenia |
OMIM:619980 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... |
ORPHA:2963 |
Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Small nail |
OMIM:617396 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Sparse hair, Cryptorchidism, Abnormal hair whorl |
ORPHA:2872 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... |
OMIM:615280 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Sparse hair, Synophrys, Thick eyebrow |
OMIM:611091 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair |
OMIM:613576 |
Adams-Oliver Syndrome |
|
Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Leukope... |
ORPHA:974 |
Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Hepatomegaly, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair... |
OMIM:222470 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Abnormal fingernai... |
ORPHA:1775 |
Mirage Syndrome |
|
Cryptorchidism, Thrombocytopenia, Leukopenia, Hypoplastic spleen, Lymphopenia, Decreased testicul... |
OMIM:617053 |
Even-Plus Syndrome |
|
Sparse hair, Synophrys, Highly arched eyebrow |
OMIM:616854 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co... |
OMIM:308300 |
Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair, Neutropenia |
OMIM:618253 |
Aredyld Syndrome |
|
Splenomegaly, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hepatomegaly |
ORPHA:1133 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Nail dystrophy, Alopecia, Bone marrow hypocellularity |
OMIM:616353 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Cryptorchidism, Fine hair |
OMIM:616817 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, T... |
OMIM:601675 |
Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, High anterior hairline, Sparse hair, Polycystic ovaries |
ORPHA:284180 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Decreased circulating total IgM, Chromosomal breakage induced by ion... |
ORPHA:420741 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Joubert Syndrome 37 |
|
Sparse hair, Cryptorchidism, Decreased testicular size, Hepatomegaly |
OMIM:619185 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:1883 |
Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... |
ORPHA:1787 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Decreased testicular size, Sparse body ... |
OMIM:300869 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline |
OMIM:619320 |
Xfe Progeroid Syndrome |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Sparse hair, Synophrys, Low anterior hairline, Fine hair |
ORPHA:391408 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... |
OMIM:614941 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Cryptorchidism, ... |
ORPHA:84 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... |
ORPHA:3253 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Anemia, Bone marrow hypocellularity, Nail dysplasia, Nail d... |
OMIM:612199 |
Hamamy Syndrome |
|
Hypoparathyroidism, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cryptorchidism, Low post... |
OMIM:611174 |
De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Sparse hair, Lymphopenia |
OMIM:619745 |
Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... |
ORPHA:140936 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Spar... |
ORPHA:217346 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... |
OMIM:620005 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,... |
OMIM:258360 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia... |
OMIM:158310 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow |
ORPHA:884 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair |
OMIM:620001 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Nail dystrophy,... |
ORPHA:436252 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes |
ORPHA:2316 |
Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Cryptorchidism, Decreased testicular size, Thick eyebrow |
ORPHA:127 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia |
OMIM:617763 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair, Cryptorchidism |
OMIM:219150 |
Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... |
ORPHA:699 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Fine hair, Anemia, Leukopenia, Hemophagocytosis, Sparse hair, Pancrea... |
OMIM:222700 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Hyperconvex nail |
OMIM:619721 |
Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy |
ORPHA:100976 |
Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Low posterior hairline |
OMIM:613174 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Cirrhosis, Fragile nails |
OMIM:242150 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair |
OMIM:614105 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... |
OMIM:106260 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
Monosomy 22 |
|
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Sparse hair |
ORPHA:96123 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Low posterior hair... |
OMIM:115150 |
Rothmund-Thomson Syndrome |
|
Aplastic anemia, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Neutropenia, Spa... |
ORPHA:2909 |
Down Syndrome |
|
Sparse hair, Abnormality of the lymphatic system, Acute megakaryocytic leukemia |
ORPHA:870 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sparse hair, Cryptorchidism, Lymphopenia, Anemia |
OMIM:616541 |
Scarf Syndrome |
|
Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Hypoplastic nipples, Sparse hair |
ORPHA:3134 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
Bainbridge-Ropers Syndrome |
|
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Synophrys, Hirsutism, Long eyelashes... |
OMIM:615485 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Nail dysplasia, Sparse hair |
OMIM:613026 |
Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Polycystic ovaries |
OMIM:268020 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Cryptorchidism, Hepatosple... |
OMIM:613563 |
Lamellar Ichthyosis |
|
Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow |
ORPHA:313 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
Agel Amyloidosis |
|
Sparse hair, Abnormal spleen morphology, Nail dystrophy |
ORPHA:85448 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Fine hair, Hepatic fibrosis, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased testicular size, Sparse body hair |
ORPHA:2234 |
Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... |
OMIM:257980 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair |
OMIM:610756 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairl... |
ORPHA:1340 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Sparse hair, Absent hair |
OMIM:614940 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... |
OMIM:268400 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Aplasia/Hypoplasia... |
ORPHA:221008 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Absent nipple, Brittle hair, Sparse eyelashes, Concave nail, Aplasia/Hypoplastia ... |
OMIM:305100 |
Macs Syndrome |
|
Sparse hair, Cryptorchidism, Alopecia, Sparse eyebrow |
OMIM:613075 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Hepatomegaly, Splenomegaly, Aplasia of the sweat glands, Sparse hair |
OMIM:612132 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Sparse hair, Hepatocellular carcinoma |
OMIM:616200 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Aplasia/Hypoplasia... |
ORPHA:221016 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Non-obstructive azoosper... |
ORPHA:2232 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology |
ORPHA:659 |
Papillon-Lefèvre Syndrome |
|
Liver abscess, Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse bo... |
ORPHA:678 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology |
ORPHA:1005 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... |
OMIM:608156 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Coa... |
OMIM:617506 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
Gapo Syndrome |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sp... |
OMIM:230740 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Cryptorchidism, Decreased testicular size, Fine hair |
ORPHA:251028 |
Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Hypoplastic fingernail |
ORPHA:2457 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha... |
ORPHA:2710 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism |
OMIM:212066 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
ORPHA:1010 |
Scarf Syndrome |
|
Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Sparse hair |
OMIM:312830 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Fine hair |
ORPHA:1806 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Abdomina... |
ORPHA:2108 |
Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow |
OMIM:302960 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Cryptorchidism, Fine hair |
OMIM:614438 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair |
OMIM:277590 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline |
OMIM:250410 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Sparse eyelashes, Cholangitis, Sparse eyebrow, Splenomegaly, Biliary cirrhosis, Cho... |
OMIM:613610 |
White-Sutton Syndrome |
|
Sparse hair |
OMIM:616364 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair |
OMIM:616449 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair |
OMIM:234100 |
Marshall Syndrome |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
ORPHA:560 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Coarse hair, Thick hair |
ORPHA:357074 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Sparse eyebrow, Splenomegaly, Sparse hair |
OMIM:252500 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Cryptorchidism, Low anterior hairline, Low posterior... |
OMIM:601358 |
Glass Syndrome |
|
Sparse hair, Long eyelashes, Nail dysplasia |
OMIM:612313 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Oligozoospermia, Nail dysplasia, Small nail, Sparse hair, Breast hypoplasia |
OMIM:614813 |
Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Fine hair, Cirrhosis, Sparse hair |
OMIM:614099 |
Osteogenesis Imperfecta, Type Xx |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Sparse hair, Thin nail, Neutropenia |
OMIM:617799 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Prolonged neonatal jaundi... |
OMIM:620186 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Cryptorchidism, Loose anagen hair, Long eyelashes, Sparse hair |
OMIM:607721 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sparse hair, Synophrys, Toenail dysplasia, Hirsutism |
OMIM:300966 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test... |
OMIM:129900 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Sparse body hair |
ORPHA:3068 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Sparse ... |
OMIM:602535 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Highly arched eyebrow, Fine hair, Hydrocele testis, Acute lymphoblastic leukemia, H... |
OMIM:280000 |
Cockayne Syndrome B |
|
Hepatomegaly, Dry hair, Abnormal hair morphology, Splenomegaly, Cryptorchidism, Sparse hair |
OMIM:133540 |
Opitz-Kaveggia Syndrome |
|
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair |
OMIM:305450 |
Cockayne Syndrome A |
|
Hepatomegaly, Dry hair, Splenomegaly, Cryptorchidism, Thymic hormone decreased, Sparse hair |
OMIM:216400 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Abnormal intrahepatic bile duct morp... |
ORPHA:363618 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Non-obstructive azoospermia, Cryptorchidism, Breast hypoplasia, Azoospermia, Hypoplasia of the ov... |
ORPHA:432 |
Kid Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Trichilemmoma, Nail dystrophy, Spar... |
ORPHA:477 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair, Decreased response to growth hormone stimulation test |
OMIM:614114 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Teebi-Shaltout Syndrome |
|
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair |
OMIM:272950 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Cryptorchidism, Coarse hair, Brittle hair |
OMIM:607812 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... |
OMIM:181270 |
Cerebellar-Facial-Dental Syndrome |
|
Sparse hair, Cryptorchidism, Sparse eyebrow, Fine hair |
ORPHA:444072 |
Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Sparse hair, Hepatic cysts |
OMIM:311200 |
Goldberg-Shprintzen Syndrome |
|
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow |
OMIM:609460 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Sparse hair, Increased circulating IgE level |
OMIM:615508 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Pancreatic cysts, Abnormality of the pancreas, Coarse hair, Sparse hair, ... |
ORPHA:2750 |
Leprosy |
|
Absent eyebrow, Alopecia, Abnormality of the spleen, Testicular mass, Loss of eyelashes, Abnormal... |
ORPHA:548 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair |
OMIM:615349 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Slow-growing hair, Short nail, Thin nail, Malformation of the hepatic ductal plate,... |
OMIM:218330 |
De Barsy Syndrome |
|
Sparse hair, Cryptorchidism |
ORPHA:2962 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Fine hair |
OMIM:618891 |
Chime Syndrome |
|
Sparse hair, Fine hair, Acute leukemia |
ORPHA:3474 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse hair, Sparse eyebrow |
OMIM:244450 |
Stuve-Wiedemann Syndrome 1 |
|
Sparse hair |
OMIM:601559 |
Premature Aging Syndrome, Penttinen Type |
|
Sparse hair |
OMIM:601812 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia |
ORPHA:920 |
Roberts Syndrome |
|
Sparse hair, Cryptorchidism, Thrombocytopenia |
ORPHA:3103 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Elevated hemoglobin A1c, Sparse eyebrow, Nail dystrophy, Macrovesicular hepatic ste... |
OMIM:619127 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Sparse scalp hair, Anterior pituitary hypoplasia, Highly arched eyebrow, Sparse eyebrow, Cryptorc... |
OMIM:619841 |
Tooth Agenesis, Selective, 4 |
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Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... |
OMIM:150400 |
Menkes Disease |
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Sparse hair, Woolly hair, Hypopigmentation of hair, Prolonged neonatal jaundice |
ORPHA:565 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Sparse hair, Cryptorchidism |
OMIM:300661 |
Hawkinsinuria |
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Sparse hair |
OMIM:140350 |
Lenz-Majewski Hyperostotic Dwarfism |
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Sparse hair, Cryptorchidism, Anterior pituitary hypoplasia |
OMIM:151050 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Elevated circulating luteinizing hormone level, Sparse axillary hair, Enlarged polycystic ovaries... |
ORPHA:90796 |
Atypical Werner Syndrome |
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Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Ovarian neoplasm... |
ORPHA:79474 |
Chondrodysplasia Punctata, Autosomal Dominant |
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Sparse hair, Coarse hair |
OMIM:118650 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Cryptorchidism, Abnormal ... |
ORPHA:2273 |
Myhre Syndrome |
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Sparse hair, Cryptorchidism, Thick eyebrow, Fine hair |
OMIM:139210 |
Costello Syndrome |
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Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Lymphangiectasis, Fragile nails |
OMIM:218040 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Sparse hair, Hepatic steatosis |
OMIM:619934 |
Focal Dermal Hypoplasia |
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Ridged nail, Brittle hair, Supernumerary nipple, Cryptorchidism, Patchy alopecia, Hypoplastic nip... |
OMIM:305600 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Prolonged neonata... |
OMIM:210710 |
Woodhouse-Sakati Syndrome |
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Sparse hair, Alopecia, Decreased testicular size, Fine hair |
OMIM:241080 |
Scalp-Ear-Nipple Syndrome |
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Sparse hair, Abnormal fingernail morphology, Breast aplasia |
ORPHA:2036 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair |
ORPHA:2636 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Sparse hair, Frontal hirsutism, Pseudohypoparathyroidism |
OMIM:617157 |
Renpenning Syndrome 1 |
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Sparse hair, Brittle hair, Decreased testicular size, Sparse lateral eyebrow |
OMIM:309500 |
Wiedemann-Rautenstrauch Syndrome |
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Sparse scalp hair, Decreased response to growth hormone stimulation test, Cryptorchidism, Synophr... |
ORPHA:3455 |
Ablepharon-Macrostomia Syndrome |
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Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail |
OMIM:200110 |
Trichorhinophalangeal Syndrome, Type Ii |
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Sparse scalp hair, Thick eyebrow, Bilateral cryptorchidism, Sparse hair, Alopecia of scalp, Fragi... |
OMIM:150230 |
Restrictive Dermopathy |
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Short nail, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse eyebrow, Sparse or absent eye... |
ORPHA:1662 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Sparse hair, Nail dystrophy, Alopecia universalis |
ORPHA:158668 |
Branchiooculofacial Syndrome |
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Supernumerary nipple, Cryptorchidism, Low posterior hairline, Premature graying of hair, White fo... |
OMIM:113620 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Sparse hair, Cryptorchidism, Nail dysplasia |
OMIM:616682 |
Lipodystrophy, Familial Partial, Type 7 |
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Sparse hair, Sparse scalp hair, Recurrent pancreatitis |
OMIM:606721 |
Menke-Hennekam Syndrome 1 |
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Sparse hair, Cryptorchidism, Long eyelashes, Thick eyebrow |
OMIM:618332 |
Wrinkly Skin Syndrome |
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Sparse hair, Cryptorchidism, Short nail, Fragile nails |
OMIM:278250 |
Roberts-Sc Phocomelia Syndrome |
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Accessory spleen, Cryptorchidism, Biliary tract abnormality, Sparse hair |
OMIM:268300 |
Neurocardiofaciodigital Syndrome |
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Sparse hair, Sparse eyebrow |
OMIM:619869 |
Wrinkly Skin Syndrome |
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Sparse hair, Cryptorchidism |
ORPHA:2834 |
Primrose Syndrome |
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Sparse scalp hair, Absent facial hair, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Absen... |
OMIM:259050 |
Pallister-Killian Syndrome |
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Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Cryptorchidi... |
OMIM:601803 |