Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Hypotrichosis 1 |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... |
OMIM:605389 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
Hypotrichosis 10 |
|
Sparse body hair, Sparse eyebrow, Sparse eyelashes |
OMIM:614238 |
Striate Palmoplantar Keratoderma |
|
Palmoplantar keratoderma, Abnormality of the nail, Abnormal hair morphology |
ORPHA:50942 |
Keratosis Palmoplantaris Striata Iii |
|
Palmoplantar keratoderma, Abnormality of the nail, Abnormal hair morphology |
OMIM:607654 |
Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pili Bifurcati |
|
Abnormality of hair texture, Abnormal hair morphology |
ORPHA:720 |
Monilethrix |
|
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Perifollicular ... |
OMIM:158000 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Follicular hyperkeratosis |
OMIM:618546 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... |
ORPHA:3361 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
Monilethrix |
|
Abnormal eyebrow morphology, Sparse hair, Brittle hair, Patchy alopecia, Follicular hyperkeratosi... |
ORPHA:573 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... |
OMIM:602032 |
Hypotrichosis 6 |
|
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis |
OMIM:607903 |
Witkop Syndrome |
|
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail |
OMIM:189500 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:616760 |
Pili Torti |
|
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... |
ORPHA:2889 |
Hidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... |
ORPHA:189 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair |
OMIM:234030 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia Areata 2 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp |
OMIM:610753 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair |
OMIM:203655 |
Hypotrichosis 5 |
|
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Plantar hyperke... |
OMIM:104100 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Tooth agenesis, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, To... |
ORPHA:2722 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail |
OMIM:614931 |
Angioma Serpiginosum, X-Linked |
|
Fine hair, Hyperkeratosis, Sparse hair, Nail dystrophy |
OMIM:300652 |
Crandall Syndrome |
|
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair |
ORPHA:202 |
Cerebellar Ataxia And Ectodermal Dysplasia |
|
Sparse hair, Alopecia |
OMIM:212835 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Pili torti, Sparse hair, Reduced terminal:vellus ratio |
OMIM:601553 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Trichodental Dysplasia |
|
Fine hair, Sparse hair, Brittle hair, Slow-growing hair |
OMIM:601453 |
Alopecia Universalis |
|
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia |
ORPHA:701 |
Pilodental Dysplasia With Refractive Errors |
|
Sparse scalp hair, Brittle hair, Brittle scalp hair, Follicular hyperkeratosis, Abnormality of th... |
OMIM:262020 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
Bjornstad Syndrome |
|
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... |
OMIM:262000 |
Hypotrichosis 7 |
|
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... |
OMIM:604379 |
Pili Torti, Early-Onset |
|
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... |
OMIM:261900 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Pili torti, Brittle hair, Hyperkeratosis, Fine hair |
ORPHA:1573 |
Sabinas Brittle Hair Syndrome |
|
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy |
OMIM:211390 |
Geographic And Fissured Tongue |
|
Geographic tongue, Furrowed tongue |
OMIM:137400 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Pili torti, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel... |
ORPHA:2891 |
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type |
|
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Agenesis of per... |
OMIM:602401 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Pili canaliculi |
OMIM:617252 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormality of the d... |
OMIM:614929 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Curly ... |
OMIM:602400 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Ony... |
ORPHA:1808 |
Clouston Syndrome |
|
Nail dysplasia, Blepharitis, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormalit... |
OMIM:129500 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Nail dysplasia, Cleft upper lip, Progressive hypotrichosis, Abnormality of hair texture, Anodonti... |
OMIM:225060 |
Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... |
ORPHA:2890 |
Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
Alopecia Areata 1 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits |
OMIM:104000 |
Parc Syndrome |
|
Cleft palate, Absent eyebrow, Absent eyelashes, Alopecia |
OMIM:600331 |
Dwarfism, Familial, With Muscle Spasms |
|
Sparse scalp hair, Fine hair, Brittle scalp hair |
OMIM:600771 |
Carvajal Syndrome |
|
Woolly hair, Patchy palmoplantar hyperkeratosis |
ORPHA:65282 |
Hypotrichosis 12 |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... |
OMIM:615885 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp |
OMIM:617294 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Anhidrosis, Woolly hair, Dystrophic toenail, Palmoplantar hyperkeratosis |
OMIM:619209 |
Ectodermal Dysplasia 5, Hair/Nail Type |
|
Sparse scalp hair, Absent toenail, Dystrophic fingernails |
OMIM:614927 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Palmoplantar keratoderma, Woolly hair |
OMIM:610476 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Sparse hair |
OMIM:272980 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Alopecia universalis, Periodontitis, Congenital alopecia totalis |
OMIM:104130 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Woolly scalp hair, Woolly hair, Alopecia |
OMIM:601217 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Sparse hair, Plantar hyperkeratosis, Dry hair, Coarse hair, Onychogryposis of toenails |
OMIM:164680 |
Woolly Hair, Autosomal Dominant |
|
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology |
OMIM:194300 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Coarse hair, Hyperkeratosis, Sparse hair, Brittle hair |
ORPHA:1883 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, ... |
OMIM:616099 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia universalis, Periodontitis, Sparse body hair, Abnormality of the dent... |
ORPHA:1008 |
Tongue, Pigmented Fungiform Papillae Of |
|
Abnormality of the tongue |
OMIM:275250 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
High palate, Failure to thrive, Brittle hair, Upslanted palpebral fissure, Alopecia, Epicanthus |
ORPHA:50812 |
Candidiasis, Familial, 1 |
|
Premature loss of teeth, Alopecia |
OMIM:114580 |
Tooth Agenesis, Selective, 8 |
|
Sparse hair, Sparse eyebrow |
OMIM:617073 |
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
Hirsutism, Thick eyebrow, Tooth malposition, Upslanted palpebral fissure, Scoliosis, Horizontal e... |
OMIM:618608 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes |
OMIM:615896 |
Progeroid Syndrome, Petty Type |
|
Failure to thrive, Generalized hirsutism, Tooth agenesis, Thick eyebrow, Sparse hair, Brittle hai... |
ORPHA:2963 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Thick eyebrow, Supernumerary tooth, Brittle hair, Thin vermilion border, Bifid uvula... |
OMIM:617412 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Lumbar hypertrichosis, Sacral hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Hypohidrosis, Abnormal fingernail morphology, Fine hair, Abnormal toenail morphology, A... |
ORPHA:248 |
Thumb Deformity And Alopecia |
|
Solitary median maxillary central incisor, Alopecia |
OMIM:188150 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Peeling Skin Syndrome 1 |
|
Palmoplantar hyperhidrosis, Nail dystrophy, Onycholysis, Brittle hair |
OMIM:270300 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Adenomatous colonic polyposis, Fundic gland polyposis, Absent eyebrow, Sparse ... |
OMIM:608615 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Colitis, Woolly hair, Sparse hair, Brittle hair, Small for gestational age, Tr... |
OMIM:614602 |
Naxos Disease |
|
Sparse scalp hair, Abnormality of hair texture, Woolly hair, Palmoplantar keratoderma, Curly hair... |
ORPHA:34217 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela... |
OMIM:234050 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Sparse hair, Hypodontia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash mo... |
ORPHA:1818 |
Alazami-Yuan Syndrome |
|
High palate, Hirsutism, Low anterior hairline, Thick eyebrow, Narrow mouth, Long philtrum, Long e... |
OMIM:617126 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypoplastic toenails, Hypodontia, Everted lower lip vermilion, Fragile nails, Abnormality of the ... |
ORPHA:2228 |
Keratosis Follicularis, Dwarfism, And Cerebral Atrophy |
|
Absent hair, Absent eyebrow, Absent eyelashes |
OMIM:308830 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Hypertrichosis, Hirsutism, Thick eyebrow, Gingival overgrowth, Macroglossia, Short neck... |
OMIM:616455 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Tooth agenesis, Supernumerary tooth, Brittle hair, Aplasia/Hypoplasia of the e... |
ORPHA:3353 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Hypohidrosis, Ridged nail, Fine hair, Slow-growing... |
OMIM:129490 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Failure to thrive, Thick eyebrow, Scoliosis, Long eyelashes, Thin upper lip ve... |
OMIM:618362 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Alopecia |
OMIM:125230 |
Oculotrichodysplasia |
|
Nail dysplasia, Sparse scalp hair, Widely spaced primary teeth, Sparse axillary hair, Sparse eyel... |
OMIM:257960 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate |
|
Sparse hair |
OMIM:129810 |
Netherton Syndrome |
|
Sparse scalp hair, Brittle hair, Sparse eyebrow, Brittle scalp hair, Parakeratosis |
OMIM:256500 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... |
OMIM:601375 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Brittle hair, Alopecia, Everted lower lip vermilion, Upslanted palpebral fissure, Coarse hair, Lo... |
ORPHA:75389 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail |
ORPHA:169095 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Slow-growing hair, Brittle hair, Tiger tail banding |
OMIM:616943 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Hyperconvex nail |
OMIM:311895 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Kyphosis, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption... |
OMIM:141300 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Pili torti, Hypoplastic toenails, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Alopecia,... |
OMIM:613573 |
Olmsted Syndrome 2 |
|
Alopecia universalis, Woolly hair, Sparse hair, Palmoplantar hyperkeratosis, Perioral hyperkerato... |
OMIM:619208 |
Porphyria, Congenital Erythropoietic |
|
Hypertrichosis, Erythrodontia, Absent eyebrow, Alopecia, Vertebral compression fracture, Loss of ... |
OMIM:263700 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Low anterior hairline, Sparse eyelashes, Thin eyebrow, Oligodontia, Thick vermilion border |
OMIM:617392 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Failure to thrive, Narrow mouth, Abnormality of hair texture, Brittle hair, Coarse h... |
OMIM:219200 |
Choroidal Atrophy-Alopecia Syndrome |
|
Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Fi... |
ORPHA:1433 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Failure to thrive, Sparse hair, Brittle hair, Sparse eyebrow, Sparse eyelashes, Triangu... |
OMIM:617988 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Wide mouth, Widely spaced primary teeth, Sparse hair, Brittle hair, Tiger tail banding, Slow-grow... |
OMIM:300953 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Tooth agenesis, Sparse eyebrow, Short eyelashes, Sparse body hair, Agenesis of... |
OMIM:150400 |
Zimmermann-Laband Syndrome 3 |
|
High palate, Kyphosis, Hypertrichosis, Low anterior hairline, Thick eyebrow, Gingival overgrowth,... |
OMIM:618658 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Hypoplastic toenails, Tooth agenesis, Toenail dysplasia, Alopecia, Short philt... |
ORPHA:2325 |
Onychotrichodysplasia And Neutropenia |
|
Short eyelashes, Trichorrhexis nodosa, Curly eyelashes, Sparse pubic hair, Chronic irritative con... |
OMIM:258360 |
Oliver-Mcfarlane Syndrome |
|
Sparse hair, Small for gestational age, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Alopecia, Hypohidrosis, Dystrophic toenail, Fine hair, Dystrop... |
ORPHA:1882 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Premature loss of teeth, Sparse hair, Brittle hair, Thin vermilion borde... |
ORPHA:50814 |
Hypotrichosis Simplex Of The Scalp |
|
Sparse scalp hair, Hyperkeratosis, Fine hair, Slow-growing scalp hair, Parakeratosis, Alopecia of... |
ORPHA:90368 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Silver-gray hair, White eyebrow, White eyelashes, Lar... |
OMIM:214450 |
Focal Facial Dermal Dysplasia Type I |
|
Thick upper lip vermilion, Low anterior hairline, Sparse hair, Downturned corners of mouth, Disti... |
ORPHA:79133 |
Atopic Keratoconjunctivitis |
|
Blepharitis, Chemosis, Loss of eyelashes, Keratoconjunctivitis sicca, Abnormal eyelid morphology |
ORPHA:163934 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Wide mouth, Hypertrichosis, Gingival overgrowth, Thick eyebrow, Short philtrum, Deep philtrum, Ho... |
OMIM:618381 |
Focal Facial Dermal Dysplasia 1, Brauer Type |
|
Distichiasis, Sparse lateral eyebrow |
OMIM:136500 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Macroglossia, Brittle hair, Upslanted palpebral fissure, Dry hair, Epicanthus, Nail dystrophy |
ORPHA:93947 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Thick upper lip vermilion, Anal atresia, Low anterior hairline, Sparse hair, Epicanthus, Distichi... |
OMIM:227260 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Ectropion, Brittle hair, Tiger tail banding, Eclabion, Trichorrhexis nodosa, C... |
OMIM:616395 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Sparse hair |
ORPHA:1174 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Macroglossia, Hypopigmentation of hair, Gloss... |
ORPHA:2221 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Leukonychia, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse axillary ha... |
OMIM:613102 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Nail pits, Ridged nail, Nail dystrophy, Alopecia |
OMIM:601705 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta, Trichodysplasia, Alopecia of scalp |
ORPHA:79129 |
Pseudoprogeria Syndrome |
|
Failure to thrive, Decreased body weight, Sparse hair, Absent eyebrow, Sparse eyebrow, Alopecia, ... |
ORPHA:2985 |
Skin Fragility-Woolly Hair Syndrome |
|
Woolly hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Palmoplantar hyperkeratosis, Acantholysi... |
OMIM:607655 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Enamel hypoplasia, Ridged nail, Alopecia |
OMIM:614564 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Sparse hair, Alopecia, Everted lower lip vermilion, Onychogryposis of fingernail, Fingernail dysp... |
ORPHA:2251 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Cronkhite-Canada Syndrome |
|
Hypoplastic toenails, Malabsorption, Patchy alopecia, Alopecia, Sparse body hair, Aplasia/Hypopla... |
ORPHA:2930 |
Schopf-Schulz-Passarge Syndrome |
|
Sparse hair, Onycholysis, Ridged nail, Narrow nail, Poroma, Apocrine hidrocystoma, Thin nail, Sma... |
OMIM:224750 |
Trichothiodystrophy 1, Photosensitive |
|
Pili torti, Malabsorption, Sparse hair, Brittle hair, Tiger tail banding, Triangular mouth, Fragi... |
OMIM:601675 |
Moynahan Syndrome |
|
Cachexia, Sparse hair, Alopecia |
ORPHA:2574 |
Nicolaides-Baraitser Syndrome |
|
Wide mouth, Sparse hair, High, narrow palate, Alopecia, Everted lower lip vermilion, Thin vermili... |
ORPHA:3051 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Loss of eyelashes |
ORPHA:2821 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Nail dystrophy, Alopecia |
OMIM:616487 |
Rosselli-Gulienetti Syndrome |
|
Nail dysplasia, Cleft upper lip, Progressive hypotrichosis, Anodontia, Hypodontia, Sparse eyebrow... |
OMIM:225000 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Sparse eyelashes, Abnormality of the dentition... |
OMIM:616901 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Failure to thrive, Kyphoscoliosis, Brittle hair, Scoliosis, Biconcave vertebral bodi... |
OMIM:236200 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Coarse hair, Sparse or absent eyelash... |
ORPHA:113 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Nail dystrophy, Sparse hair, Sparse eyebrow, Tiger tail banding |
OMIM:619692 |
Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome |
|
Absent eyebrow, Absent eyelashes |
ORPHA:2339 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Microdontia, Widely spaced teeth, Selective ... |
OMIM:225280 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair |
ORPHA:492 |
Menkes Disease |
|
Sparse hair, Brittle hair, Alopecia |
OMIM:309400 |
Catel-Manzke Syndrome |
|
Failure to thrive, Cleft palate, Glossoptosis, Scoliosis, Highly arched eyebrow, Oral synechia |
ORPHA:1388 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Hypertrichosis |
OMIM:617524 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Palmoplantar keratoderma, Woolly hair |
OMIM:611528 |
Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Wide mouth, Hirsutism, Hypertrichosis, Thick eyebrow, Sparse hair, Macroglossi... |
OMIM:614608 |
Chand Syndrome |
|
Nail dysplasia, Curly hair |
OMIM:214350 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Nail dysplasia, Oral mucosal blisters, Alopecia, Abnormality of the dentition, Nail dystrophy |
ORPHA:79397 |
Cardiofaciocutaneous Syndrome |
|
High palate, Sparse hair, Brittle hair, Aplasia/Hypoplasia of the eyebrow, Long palpebral fissure... |
ORPHA:1340 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent nipple, Taurodontia, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Abse... |
OMIM:305100 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Carious teeth, Kyphoscoliosis, Hypodontia, Alopecia |
OMIM:612079 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thick eyebrow, Sparse hair, Widow's peak |
OMIM:606242 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Short palpebral fissure, Alopecia, Upslanted palpebral fissure, Long philtrum, Thin ... |
OMIM:617763 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Cheilitis, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nai... |
ORPHA:129 |
Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Nail dysplasia, Sparse hair, Supernumerary nipple, Nail dystrophy |
OMIM:275450 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Leukonychia, Woolly hair, Fragile nails, Hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma... |
OMIM:615821 |
Tristichiasis |
|
Three rows of eyelashes |
OMIM:190800 |
Distichiasis |
|
Distichiasis |
OMIM:126300 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Hypodontia, Cleft palate, Brittle hair, Oligodontia, Scoliosis, Enamel hypoplasi... |
OMIM:619184 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Brittle hair, Narrow mouth, Neonatal death, Sparse eyebrow |
OMIM:618810 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Alopecia, Thoracic kyphoscoliosis, Carious teeth, Teleca... |
OMIM:203550 |
Hawkinsinuria |
|
Fine hair, Sparse hair |
ORPHA:2118 |
Flynn-Aird Syndrome |
|
Carious teeth, Kyphoscoliosis, Alopecia of scalp, Alopecia |
OMIM:136300 |
Hutchinson-Gilford Progeria Syndrome |
|
High palate, Dental crowding, Narrow mouth, Persistence of primary teeth, Absent eyebrow, Patchy ... |
ORPHA:740 |
Pachyonychia Congenita 2 |
|
Nail dysplasia, Palmoplantar hyperhidrosis, Sparse scalp hair, Sparse eyebrow, Subungual hyperker... |
OMIM:167210 |
Focal Facial Dermal Dysplasia Type Iii |
|
Anal atresia, Sparse hair, Short philtrum, Abnormal hair pattern, Downturned corners of mouth, Do... |
ORPHA:1807 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Trichomegaly |
|
Long eyelashes |
OMIM:190330 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Coarse hair, Sparse hair |
OMIM:619985 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Anal atresia, Sparse hair, Abnormal soft palate morphology, Sparse eye... |
ORPHA:884 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Nail dysplasia, Blepharitis, Sparse eyebrow, Sparse eyelashes, Alopecia, Carious teeth, Enamel hy... |
OMIM:612843 |
Alopecia Antibody Deficiency |
|
Sparse body hair, Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair |
ORPHA:1006 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Hypodontia, Patchy alopecia, Fragile nails, Carious teeth, Enamel hypoplas... |
OMIM:226650 |
Coffin-Siris Syndrome 4 |
|
Sparse scalp hair, Wide mouth, Hirsutism, Hypertrichosis, Thick eyebrow, Macroglossia, Scoliosis,... |
OMIM:614609 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Hirsutism, Narrow palate, Intestinal malrotation, Carious teeth... |
OMIM:613684 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Sparse hair, Cleft palate, Alopecia, Abnormally ossified vertebrae, Thin eyebrow, Short neck, Bif... |
ORPHA:2636 |
Cornelia De Lange Syndrome 2 |
|
High palate, Hirsutism, Low anterior hairline, Thick eyebrow, Short neck, Downturned corners of m... |
OMIM:300590 |
Schöpf-Schulz-Passarge Syndrome |
|
Hypodontia, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Premature loss of primary t... |
ORPHA:50944 |
Hypotrichosis 3 |
|
Sparse scalp hair, Abnormal sweat gland morphology, Abnormal eyelash morphology, Abnormality of t... |
OMIM:613981 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
High palate, Premature loss of teeth, Narrow mouth, Sparse hair, Brittle hair, Alopecia, Dental c... |
OMIM:608612 |
Cardiofaciocutaneous Syndrome 2 |
|
Fine hair, Sparse hair, Curly hair, Absent eyebrow |
OMIM:615278 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Sparse hair, Brittle hair, Cleft palate, Coarse hair, Long philtrum, Del... |
OMIM:607812 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Kyphoscoliosis, Cleft palate, Upslanted palpebral fissure, Alopecia, Severe failure to thrive, Co... |
OMIM:215100 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Nail dysplasia, Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Sparse body hair, Abnorm... |
ORPHA:1809 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Ectropion, Everted lower lip vermilion, Alopecia |
OMIM:242510 |
Hypomelanosis Of Ito |
|
Kyphosis, Irregularly spaced teeth, Alopecia, Scoliosis, Epicanthus, Thick lower lip vermilion |
OMIM:300337 |
Hepatoerythropoietic Porphyria |
|
Ectropion, Erythrodontia, Seborrhoeic blepharitis, Keratoconjunctivitis, Facial hypertrichosis, L... |
ORPHA:95159 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Palmoplantar keratoderma, Woolly hair |
OMIM:605676 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse hair, Absent eyebrow, Toenail dysplasia, Alopecia, Abnormality of the dentition, Palpebral... |
OMIM:607823 |
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
Partial duplication of eyebrows, Long eyelashes |
OMIM:227210 |
Wiedemann-Steiner Syndrome |
|
High palate, Failure to thrive, Thick eyebrow, Abnormality of the dentition, Long philtrum, Downs... |
OMIM:605130 |
Blepharo-Cheilo-Odontic Syndrome |
|
Anal atresia, Abnormal hair quantity, Euryblepharon, Carious teeth, Bilateral cleft lip and palat... |
ORPHA:1997 |
Rothmund-Thomson Syndrome, Type 1 |
|
Sparse hair, Absent eyebrow, Conical tooth, Absent eyelashes, Nail dystrophy, Thin nail |
OMIM:618625 |
Bazex Syndrome |
|
Pili torti, Sparse hair, Coarse hair, Trichorrhexis nodosa, Hypohidrosis, Trichoepithelioma |
OMIM:301845 |
Cortisone Reductase Deficiency 1 |
|
Obesity, Hirsutism, Alopecia |
OMIM:604931 |
Mental Retardation, Buenos Aires Type |
|
High palate, Wide mouth, Dental malocclusion, Failure to thrive, Fair hair, Curly eyelashes, Cari... |
OMIM:249630 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Sparse hair, Absent eyebrow, Absent eyelashes, Dystrophic fingernails, Nail dystrophy, Alopecia o... |
OMIM:604536 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse body hair, Slow-growing hair, Sparse eyelashes |
OMIM:618535 |
Orofaciodigital Syndrome Type 1 |
|
High palate, Sparse hair, Cleft palate, Alopecia, Abnormality of the dentition, Coarse hair, Lobu... |
ORPHA:2750 |
Coffin-Siris Syndrome 5 |
|
Sparse scalp hair, Hypoplastic toenails, Wide mouth, Low anterior hairline, Thick eyebrow, Short ... |
OMIM:616938 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hypoplastic toenails, Hypohidrosis, Abnormal fingernail morphology, Hyperkeratosis, Fine hair, On... |
ORPHA:1028 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse pubic hair, Sparse axillary hair |
OMIM:146110 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Abnormality of the tongue, Cheilitis, Malabsorption, Blepharitis, Fa... |
ORPHA:37 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Nail dysplasia, Wide mouth, Thick upper lip vermilion, Thick eyebrow, Facial hirsutism, Narrow ph... |
ORPHA:163654 |
Amaurosis-Hypertrichosis Syndrome |
|
Coarse hair, Abnormal eyelash morphology, Thick eyebrow, Synophrys |
ORPHA:1021 |
Hypertrichosis Cubiti |
|
Generalized hirsutism, Thick eyebrow, Abnormal eyelid morphology, Abnormal nasolacrimal system mo... |
ORPHA:2220 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Pili torti, Cleft upper lip, Anodontia, Sparse hair, Hypodontia, Alopecia, Aplasia/Hypoplasia of ... |
ORPHA:3253 |
Oculodentodigital Dysplasia |
|
Tooth agenesis, Taurodontia, Sparse hair, Brittle hair, Cleft palate, Upslanted palpebral fissure... |
ORPHA:2710 |
Renpenning Syndrome |
|
Anal atresia, Narrow mouth, Abnormal hairshaft morphology, High, narrow palate, Cleft palate, Alo... |
ORPHA:3242 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair, Abnormality of the dentition, Scoliosis, Spina bifida occulta, Epican... |
ORPHA:177 |
Hereditary Mucoepithelial Dysplasia |
|
Gingival overgrowth, Sparse hair, Alopecia, Tracheoesophageal fistula, Furrowed tongue, Fine hair |
ORPHA:1839 |
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
Mcdonough Syndrome |
|
Dental malocclusion, Kyphosis, Short palpebral fissure, Open bite, Cachexia, Short philtrum, Scol... |
ORPHA:2471 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Weight loss, Cleft palate |
ORPHA:141152 |
Odontoonychodermal Dysplasia |
|
Nail dysplasia, Palmoplantar hyperhidrosis, Sparse scalp hair, Orthokeratosis, Thin nail, Sparse ... |
OMIM:257980 |
Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Onycholysis of distal fingernails, Absent pubic hair, Premature loss of permanent teeth, Nail dys... |
OMIM:619816 |
Acrofacial Dysostosis, Palagonia Type |
|
Pili torti, Low anterior hairline, Supernumerary tooth, Sparse hair, High, narrow palate, Sparse ... |
ORPHA:1787 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Scoliosis |
ORPHA:2850 |
Faciocardiomelic Syndrome |
|
Wide mouth, Dental malocclusion, Short eyelashes, Long philtrum, Telecanthus, Large for gestation... |
OMIM:612731 |
Acromicric Dysplasia |
|
Narrow mouth, Long philtrum, Deep philtrum, Long eyelashes, Ovoid vertebral bodies, Thick lower l... |
OMIM:102370 |
Porphyria Cutanea Tarda |
|
Onycholysis, Facial hypertrichosis, Alopecia |
OMIM:176100 |
Craniodigital-Intellectual Disability Syndrome |
|
Generalized hirsutism, Thick eyebrow, Abnormal hair pattern, Spina bifida occulta, Long eyelashes... |
ORPHA:1514 |
Hall-Riggs Syndrome |
|
Wide mouth, Failure to thrive, Coarse hair, Platyspondyly, Scoliosis, Delayed eruption of teeth, ... |
ORPHA:2107 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Upslanted palpebral fissure, Small for gestational age, Short philtrum, Downturned corners of mou... |
ORPHA:231137 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Premature loss of teeth, Failure to thrive, Sparse hair, Alopecia, Carious teeth, Nail dystrophy,... |
OMIM:616353 |
Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Dental malocclusion, Failure to thrive, Low anterior hairline, Narrow ... |
OMIM:617883 |
Trichohepatoenteric Syndrome 1 |
|
Wide mouth, Narrow mouth, Failure to thrive, Woolly hair, Sparse hair, Brittle hair, Small for ge... |
OMIM:222470 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Everted lower lip vermilion, Delayed eruption of teeth, Truncal obesity, Fine ... |
ORPHA:181393 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
High palate, Thick eyebrow, Long philtrum, Prominent protruding coccyx, Downslanted palpebral fis... |
ORPHA:480907 |
Coffin-Siris Syndrome 2 |
|
Sparse scalp hair, High palate, Hirsutism, Low anterior hairline, Thick eyebrow, Wide mouth, Clef... |
OMIM:614607 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair |
ORPHA:85274 |
Cornelia De Lange Syndrome 5 |
|
High palate, Hirsutism, Low anterior hairline, Cleft palate, Thin vermilion border, Short neck, L... |
OMIM:300882 |
Lelis Syndrome |
|
Yellow nails, Sparse hair, Hypodontia, Upslanted palpebral fissure, Carious teeth, Furrowed tongu... |
ORPHA:140936 |
Rombo Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology |
OMIM:180730 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Anal atresia, Sparse hair, Hypodontia, Distichiasis, Conical tooth, High anterio... |
OMIM:119580 |
Marshall-Smith Syndrome |
|
High palate, Hypertrichosis, Sparse hair, Eclabion, Short philtrum, Shallow orbits, Microdontia, ... |
OMIM:602535 |
Fibrodysplasia Ossificans Progressiva |
|
Abnormal vertebral morphology, Failure to thrive, Spinal rigidity, Alopecia |
ORPHA:337 |
Leprosy |
|
Absent eyebrow, Alopecia, Sparse body hair, Paralytic lagophthalmos, Loss of eyelashes |
ORPHA:548 |
Mucolipidosis Ii Alpha/Beta |
|
Wide mouth, Gingival overgrowth, Failure to thrive, Sparse hair, Brittle hair, Sparse eyebrow, Ma... |
OMIM:252500 |
Quinquaud Folliculitis Decalvans |
|
Scarring alopecia of scalp, Abnormal hair morphology, Patchy alopecia |
ORPHA:346 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Hypodontia, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Oligodontia, S... |
ORPHA:59303 |
Erythrokeratodermia Variabilis |
|
Generalized hirsutism, Alopecia, Weight loss, Abnormality of the nail, Abnormal hair morphology |
ORPHA:317 |
Congenital Erythropoietic Porphyria |
|
Ectropion, Erythrodontia, Seborrhoeic blepharitis, Keratoconjunctivitis, Facial hypertrichosis, L... |
ORPHA:79277 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Abnormality of the dentition, Abnormal form of the vertebral bodies, Cleft palate |
ORPHA:3104 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
High palate, Kyphosis, Long philtrum, Scoliosis, Distichiasis |
ORPHA:2598 |
Microtriplication 11Q24.1 |
|
Thick eyebrow, Cleft palate, Irregularly spaced teeth, Upslanted palpebral fissure, Short philtru... |
ORPHA:289522 |
Mandibulofacial Dysostosis With Alopecia |
|
Cleft palate, Everted lower lip vermilion, Sparse eyelashes, Alopecia, Glossoptosis, Lower eyelid... |
OMIM:616367 |
Copper Deficiency, Familial Benign |
|
Early balding, Curly hair |
OMIM:121270 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Scarring alopecia of scalp, Anonychia, Nail dystrophy |
ORPHA:79402 |
Johnson Neuroectodermal Syndrome |
|
Failure to thrive, Absent eyebrow, Cleft palate, Sparse hair, Alopecia, Everted lower lip vermili... |
ORPHA:2316 |
Keratoderma Hereditarium Mutilans |
|
Cleft palate, Abnormality of the nail, Abnormal toenail morphology, Alopecia |
ORPHA:494 |
Trichothiodystrophy |
|
Sparse scalp hair, Ectropion, Split nail, High, narrow palate, Brittle hair, Tiger tail banding, ... |
ORPHA:33364 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dysplasia, Alopecia totalis, Nail dystrophy |
OMIM:212360 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Small for gestational age, Fine hair, Failure to thrive in infancy, Su... |
OMIM:618891 |
Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Narrow mouth, Long philtrum, Long eyelashes, Ovoid vertebral bodies,... |
ORPHA:969 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Progressive alopecia, Narrow mouth, Velopharyngeal insufficiency, Sparse hair, C... |
OMIM:129400 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Nail dystrophy, Alopecia |
OMIM:618373 |
Olmsted Syndrome 1 |
|
Nail dysplasia, Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy |
OMIM:614594 |
Whistling Face Syndrome, Recessive Form |
|
High palate, Narrow mouth, Kyphoscoliosis, Short palpebral fissure, Short neck, Long philtrum, Wh... |
OMIM:277720 |
Cantu Syndrome |
|
Thick upper lip vermilion, Gingival overgrowth, Congenital, generalized hypertrichosis, Short nec... |
OMIM:239850 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Ectropion, Sparse hair, Everted lower lip vermilion, Alopecia, Nail dystrophy |
OMIM:242300 |
Waardenburg Syndrome Type 1 |
|
Cleft upper lip, Thick eyebrow, Cleft palate, Hypopigmentation of hair, Scoliosis, Telecanthus, W... |
ORPHA:894 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Intestinal obstruction, Telecanthus, White... |
ORPHA:897 |
Monosomy 18P |
|
Kyphoscoliosis, Tooth malposition, Cleft palate, Alopecia, Hypodontia, Short philtrum, Short neck... |
ORPHA:1598 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
High palate, Abnormality of the dentition, Alopecia |
OMIM:618282 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Anodontia, Sparse hair, Sparse eyebrow, Sparse eyelashes, Hypodontia, Everted lower lip vermilion... |
OMIM:224900 |
Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
Mcdonough Syndrome |
|
Hypoplastic toenails, Dental malocclusion, Kyphoscoliosis, Sparse hair, Upslanted palpebral fissu... |
OMIM:248950 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Ectropion, Congenital alopecia totalis, Sparse eyebrow, Eclabion, Absent pubic hair, Absent axill... |
ORPHA:2269 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Thick eyebrow, Hypodontia, Cleft palate, Supernumerary tooth, Macrogloss... |
ORPHA:3473 |
Distal Trisomy 6P |
|
Narrow mouth, Abnormal hair quantity, Thin vermilion border, Short neck, Abnormal eyelash morphol... |
ORPHA:1745 |
Flynn-Aird Syndrome |
|
Kyphosis, Alopecia, Cachexia, Scoliosis, Carious teeth |
ORPHA:2047 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Narrow mouth, Increased vertebral height, Kyphoscoliosis, Sparse hair, Small for gestational age,... |
OMIM:616817 |
Spinocerebellar Ataxia With Dysmorphism |
|
Coarse hair, Scoliosis, Downturned corners of mouth, Thick lower lip vermilion, Ptosis |
OMIM:271270 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Ptosis, Alopecia |
ORPHA:1067 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dysplasia, Abnormality of hair texture, Nail dystrophy |
OMIM:601957 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormality of the tongue, Sparse hair, Hypodontia, Alopecia, Abnormality of the dentition, Abnor... |
ORPHA:659 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Absent eyebrow, Absent eyelashes |
OMIM:182815 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Barrett esophagus, Weight loss, Obesity, Abnormal intestine morphology |
ORPHA:70482 |
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Coarse hair |
OMIM:248010 |
Osteogenesis Imperfecta, Type Xiii |
|
Kyphoscoliosis, Decreased body weight, Thin vermilion border, Long palpebral fissure, Platyspondy... |
OMIM:614856 |
Kury-Isidor Syndrome |
|
High palate, Hypertrichosis, Triangular mouth, Alopecia, Short neck, Long philtrum, Scoliosis, Do... |
OMIM:619762 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair, Hyperhidrosis |
OMIM:615279 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Hirsutism, Low anterior hairline, Thick eyebrow, Sparse hair, Everted lower lip vermilion, Upper ... |
OMIM:616819 |
Oculocerebrocutaneous Syndrome |
|
Orbital cyst, Eyelid coloboma, Cleft palate, Alopecia |
OMIM:164180 |
Temple-Baraitser Syndrome |
|
High palate, Wide mouth, Delayed eruption of teeth, Long eyelashes, Tented upper lip vermilion, O... |
ORPHA:420561 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Malabsorption, Alopecia, Cachexia, Xerostomia, Glossitis, Protein-losing enteropa... |
OMIM:175500 |
Blepharocheilodontic Syndrome 2 |
|
Tooth agenesis, Euryblepharon, Distichiasis, Conical tooth, Ectropion of lower eyelids |
OMIM:617681 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Hypodontia, Sparse eyebrow, Sparse eyelashes, Oligodontia, Natal tooth, Hypopl... |
OMIM:601345 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Sparse hair, Abnormal fingernail morphology |
ORPHA:1810 |
Developmental And Epileptic Encephalopathy 49 |
|
Thick upper lip vermilion, Short philtrum, Long eyelashes, Open mouth |
OMIM:617281 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Cleft upper lip, Blepharitis, Lacrimal duct atresia, Supernumerary nipple, Patchy alopecia, Spars... |
OMIM:106260 |
Blepharonasofacial Malformation Syndrome |
|
Tooth agenesis, Cleft palate, Long philtrum, Telecanthus, Epicanthus, Abnormal eyelash morphology... |
ORPHA:1252 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Upslanted palpebral fissure, Coarse hair, Bilateral ptosis, Widely spaced teeth, Epicanthus, Syno... |
OMIM:616351 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Generalized hirsutism, Thin vermilion border, Abnormality of the dentition, Short philt... |
ORPHA:238750 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Nail dysplasia, Scoliosis, Alopecia |
OMIM:615704 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Tooth malposition, Everted lower lip vermilion, Short philtrum, Scoliosis, Hyperlord... |
ORPHA:1387 |
Waardenburg Syndrome, Type 4B |
|
White eyebrow, White eyelashes, White forelock, Premature graying of hair, Aganglionic megacolon |
OMIM:613265 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Pachyonychia Congenita |
|
Failure to thrive, Alopecia, Onychogryposis of fingernail, Paronychia, Fingernail dysplasia, Adva... |
ORPHA:2309 |
Dermoodontodysplasia |
|
Sparse scalp hair, Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Trichodysplasia |
ORPHA:1660 |
Craniofrontonasal Dysplasia |
|
High palate, Abnormality of hair texture, Woolly hair, Abnormality of the dentition, Scoliosis, R... |
ORPHA:1520 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Supernumerary nipple, Alopecia, Abnormality of the dentition, Truncal obesity, Epicanthus, Abnorm... |
ORPHA:3224 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Wide mouth, Sparse eyebrow, Short philtrum, Microdontia, Long eyelashes, Aplastic/hypoplastic toe... |
OMIM:619293 |
Non-Distal Trisomy 13Q |
|
High palate, Hypoplastic toenails, Thick eyebrow, Everted lower lip vermilion, Thin vermilion bor... |
ORPHA:1702 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
High palate, Lumbar hyperlordosis, Long philtrum, Scoliosis, Downslanted palpebral fissures, Long... |
OMIM:619451 |
Proximal 16P11.2 Microduplication Syndrome |
|
Failure to thrive, Sparse eyebrow, Sparse eyelashes, Hemivertebrae, Scoliosis, Decreased body mas... |
ORPHA:370079 |
Orofacial Cleft 15 |
|
Sparse eyebrow, Sparse eyelashes, Upslanted palpebral fissure, Agenesis of lateral incisor, Bilat... |
OMIM:616788 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Alopecia totalis, Hyperkeratosis, Palmopla... |
OMIM:300918 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Hirsutism, Low anterior hairline, Thick eyebrow, Palpebral edema, Long eyelashes, Highly arched e... |
ORPHA:466688 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Sparse hair, Cleft palate, Everted lower lip vermilion, Hyperlordos... |
OMIM:619980 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Neoplasm of the oral cavity, Pterygium, Abnormal intest... |
ORPHA:525 |
Weaver Syndrome |
|
Hypoplastic toenails, Deep-set nails, Long philtrum, Scoliosis, Abnormal fingernail morphology, D... |
ORPHA:3447 |
Argininosuccinic Aciduria |
|
Dry hair, Trichorrhexis nodosa, Brittle hair |
OMIM:207900 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hypodontia, Sparse hair, Alopecia, Sparse eyelashes, Oligodontia, Enamel hypoplasia, Thick hair |
OMIM:607626 |
Neuroocular Syndrome |
|
Short uvula, Downslanted palpebral fissures, Long eyelashes, Distichiasis, Lagopthalmos, Ankylogl... |
OMIM:619539 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Hypopigmentation of hair, Aganglionic m... |
ORPHA:2885 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
High palate, Thick eyebrow, Scoliosis, Long eyelashes, Conical tooth, Synophrys, Thick hair, High... |
OMIM:617773 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Narrow mouth, Low anterior hairline, Kyphoscoliosis, Sparse hair, Decreased body weight, Small fo... |
ORPHA:391408 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
2Q32Q33 Microdeletion Syndrome |
|
High palate, Narrow mouth, Sparse hair, Cleft palate, Thin vermilion border, Oligodontia, Long ph... |
ORPHA:251019 |
Deafness-Craniofacial Syndrome |
|
Upslanted palpebral fissure, Temporal hypotrichosis, Short philtrum, Bifid tongue, Abnormality of... |
ORPHA:3241 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair |
ORPHA:181 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Atrophic, patchy alopecia, Sparse pubic hair, Enamel hypoplasia, Dystrophic... |
ORPHA:251393 |
Abcd Syndrome |
|
Neonatal death, Large for gestational age, Albinism, White eyelashes, White eyebrow, Total intest... |
OMIM:600501 |
Mullegama-Klein-Martinez Syndrome |
|
Failure to thrive, Low anterior hairline, Cleft palate, Short philtrum, Long philtrum, Curly eyel... |
OMIM:301022 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Absent nipple, Sparse hair |
OMIM:129510 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Epicanthus, Fine hair, Abnormal palate morphology, Blepharophimosis, Abnormal dental enamel morph... |
ORPHA:3236 |
Bresek Syndrome |
|
Cleft palate, Alopecia, Hemivertebrae, Scoliosis, Neonatal death, Aganglionic megacolon |
ORPHA:85284 |
Radio-Tartaglia Syndrome |
|
High palate, Wide mouth, Short philtrum, Downslanted palpebral fissures, Long eyelashes, Long eye... |
OMIM:619312 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Abnormality of the small intestine, Alopecia |
ORPHA:100025 |
17Q11.2 Microduplication Syndrome |
|
Sparse eyebrow, Sparse eyelashes, Thin vermilion border, Enamel hypoplasia, Abnormal dental ename... |
ORPHA:139474 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Narrow mouth, Ankyloblepharon, Cleft palate, Aplasia/Hypoplasia of the eyeb... |
ORPHA:1234 |
Man1B1-Cdg |
|
Sparse eyebrow, Eclabion, Abnormal position of hair whorl, Short philtrum, Short neck, Truncal ob... |
ORPHA:397941 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Rhabdomyolysis, Ragged-red muscle fibers, Brittle hair |
OMIM:124000 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Epicanthus, Long eyelashes, Inc... |
OMIM:615502 |
Macs Syndrome |
|
High palate, Gingival overgrowth, Decreased body weight, Sparse hair, Sparse eyebrow, Alopecia, E... |
OMIM:613075 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal spaced incisors, Low anterior hairline, Thick eyebrow, Everted lower lip vermilion, Shor... |
ORPHA:411986 |
Bathing Suit Ichthyosis |
|
Ectropion, Sparse hair, Alopecia, Eclabion, Nail dystrophy |
ORPHA:100976 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Tooth agenesis, Delayed eruption of teeth, Downslanted palpebral fissu... |
ORPHA:2863 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Low anterior hairline, Downslanted palpebral fissures, Telecanthus, Epicanthus, Long eyelashes, S... |
OMIM:618828 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Anodontia, Sparse hair, Sparse eyelashes, Absent pubic hair, Hypoplastic nipples, Downslanted pal... |
OMIM:211370 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
High palate, Wide mouth, Failure to thrive, Thin eyebrow, Scoliosis, Oral cleft, Long eyelashes, ... |
ORPHA:502434 |
Intestinal Dysmotility Syndrome |
|
High palate, Failure to thrive, Broad philtrum, Weight loss |
OMIM:620045 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
High palate, Leukonychia, Supernumerary tooth, Sparse hair, Sparse eyebrow, Sparse eyelashes, Lon... |
ORPHA:77258 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Upslanted palpebral fissure, Abnormality of the dentition, Telecanthus, Conical tooth, ... |
ORPHA:228390 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Failure to thrive, Ectropion, Abnormality of the nail, Alopecia |
ORPHA:79394 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Woolly hair, Sparse hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
Noonan Syndrome 5 |
|
Wide mouth, Sparse eyebrow, Short neck, Downslanted palpebral fissures, Epicanthus, Large for ges... |
OMIM:611553 |
Giant Axonal Neuropathy |
|
Woolly hair, Limb muscle weakness, Pili canaliculi, Abnormality of the Achilles tendon, Facial palsy |
ORPHA:643 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
Schuurs-Hoeijmakers Syndrome |
|
Wide mouth, Low anterior hairline, Diastema, Downturned corners of mouth, Downslanted palpebral f... |
OMIM:615009 |
Tietz Albinism-Deafness Syndrome |
|
White eyebrow, White eyelashes |
OMIM:103500 |
Pontocerebellar Hypoplasia Type 10 |
|
Long palpebral fissure, Long eyelashes, Highly arched eyebrow |
ORPHA:411493 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Wide mouth, Hirsutism, Gingival overgrowth, Thick eyebrow, Sparse hair, Failure to thrive, Everte... |
OMIM:212066 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Scoliosis, Widely spaced teeth, Small cervical vertebral bodies, Progressive cervical v... |
OMIM:135100 |
Lessel-Kubisch Syndrome |
|
Premature graying of hair, Sparse pubic hair |
OMIM:618681 |
Trichorhinophalangeal Syndrome, Type I |
|
Dental malocclusion, Leukonychia, Thin nail, Sparse hair, Narrow palate, Thin eyebrow, Long philt... |
OMIM:190350 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent nipple, Sparse scalp hair, Sparse hair, Absent eyebrow, Sparse eyelashes, Sparse body hair... |
OMIM:614941 |
2Q23.1 Microduplication Syndrome |
|
Wide mouth, Low anterior hairline, Abnormality of the dentition, Bilateral ptosis, Long eyelashes... |
ORPHA:313947 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Mandibular ... |
OMIM:614669 |
Oculomaxillofacial Dysostosis |
|
Cleft palate, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Abnormality of the ... |
ORPHA:1794 |
Renpenning Syndrome 1 |
|
High palate, Anal atresia, Narrow mouth, Sparse hair, Cleft palate, Brittle hair, Upslanted palpe... |
OMIM:309500 |
Aredyld Syndrome |
|
Abnormal dental enamel morphology, Narrow mouth, Upslanted palpebral fissure, Sparse body hair, A... |
ORPHA:1133 |
Lipoid Proteinosis |
|
High palate, Abnormality of the gingiva, Alopecia of scalp, Abnormal oral mucosa morphology, Tong... |
ORPHA:530 |
Cerebrofaciothoracic Dysplasia |
|
Cleft upper lip, Wide mouth, Vertebral segmentation defect, Thick eyebrow, Cleft palate, Hemivert... |
ORPHA:1394 |
Leopard Syndrome 2 |
|
Short neck, Downslanted palpebral fissures, Epicanthus, Curly hair, Thick lower lip vermilion |
OMIM:611554 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Protruding tongue, Smooth philtrum, Open mouth |
OMIM:618732 |
Nablus Mask-Like Facial Syndrome |
|
High palate, Narrow mouth, Low anterior hairline, Sparse hair, Sparse eyebrow, Sparse eyelashes, ... |
OMIM:608156 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia, Scoliosis |
OMIM:616540 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
19Q13.11 Microdeletion Syndrome |
|
Nail dysplasia, Wide mouth, Failure to thrive, Sparse hair, Supernumerary nipple, Thin vermilion ... |
ORPHA:217346 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal palate morphology, Kyphosis, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyeb... |
ORPHA:3082 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
High palate, Kyphosis, Hirsutism, Low anterior hairline, Woolly hair, Broad eyebrow, Short philtr... |
OMIM:619244 |
Syndromic Diarrhea |
|
Colitis, Woolly hair, Gastritis, Brittle hair, Small for gestational age, Hypopigmentation of hai... |
ORPHA:84064 |
Mucopolysaccharidosis, Type Iiic |
|
Beaking of vertebral bodies, Hirsutism, Hypertrichosis, Kyphoscoliosis, Everted lower lip vermili... |
OMIM:252930 |
Burning Mouth Syndrome |
|
Parageusia, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain, Strawberry to... |
ORPHA:353253 |
Cerebrooculonasal Syndrome |
|
High palate, U-Shaped upper lip vermilion, Sparse eyebrow, Sparse eyelashes, Upslanted palpebral ... |
ORPHA:66625 |
Waardenburg Syndrome, Type 2A |
|
Albinism, White eyelashes, White eyebrow, Synophrys, White forelock, Premature graying of hair |
OMIM:193510 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Hypohidrosis, Abnormal fingernail morphology, Hyperkeratosis, Fine hair |
ORPHA:1806 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse hair, Sparse eyebrow, Hyperconvex nail, Sparse eyelashes, Hyperconvex fingernails, Coarse ... |
ORPHA:1071 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Thin vermilion border, Short neck, Long philtrum, Epicanthus, Fine hair |
OMIM:614800 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
High palate, Short neck, Long philtrum, Scoliosis, Long eyelashes, Failure to thrive in infancy |
OMIM:619026 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Short philtrum, Microdontia, Curly hair, Thick eyebrow, Short palpebral fissure, Scoliosis, Bleph... |
OMIM:617360 |
3-Methylglutaconic Aciduria, Type Ix |
|
High palate, Failure to thrive, Long eyelashes, Short neck |
OMIM:617698 |
Pontocerebellar Hypoplasia, Type 13 |
|
High palate, Thick upper lip vermilion, Failure to thrive, Short philtrum, Macrodontia, Volvulus,... |
OMIM:618606 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
High palate, Long philtrum, Downslanted palpebral fissures, Long eyelashes, Thin upper lip vermil... |
OMIM:617523 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse body hair, Palpebral edema, Absent eyelashes |
ORPHA:69735 |
Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Kyphosis, Abnormality of hair texture, Narrow palate, High, narrow... |
ORPHA:96169 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Malabsorption, Alopecia, Glossoptosis, Weight loss, Conjunctivitis |
ORPHA:47 |
Cantú Syndrome |
|
Wide mouth, Generalized hirsutism, Low anterior hairline, Thick eyebrow, Short neck, Long philtru... |
ORPHA:1517 |
Waardenburg Syndrome, Type 4A |
|
White eyebrow, White eyelashes, White forelock, Premature graying of hair, Aganglionic megacolon |
OMIM:277580 |
Systemic Lupus Erythematosus 17 |
|
Oral ulcer, Alopecia |
OMIM:301080 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Failure to thrive, Sparse eyebrow, Sparse eyelashes, Bilateral cleft lip and palate,... |
OMIM:618874 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Cleft palate, Sparse hair, Alopecia, Carious teeth, Absent eyelashes |
OMIM:147770 |
Acrogeria |
|
Fine hair |
ORPHA:2500 |
Leopard Syndrome 3 |
|
Epidermal hyperkeratosis, Hyperkeratosis, Curly hair, Low posterior hairline |
OMIM:613707 |
Adult Syndrome |
|
Absent nipple, Sparse scalp hair, Toenail dysplasia, Alopecia, Abnormality of the dentition, Fing... |
ORPHA:978 |
8Q22.1 Microdeletion Syndrome |
|
Sparse eyebrow, Sparse eyelashes, Abnormality of the dentition, Short neck, Abnormal hair pattern... |
ORPHA:178303 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
X-Linked Dominant Chondrodysplasia Punctata |
|
High palate, Kyphoscoliosis, Sparse eyebrow, Sparse eyelashes, Patchy alopecia, Abnormally ossifi... |
ORPHA:35173 |
Rothmund-Thomson Syndrome, Type 2 |
|
Sparse scalp hair, High palate, Kyphoscoliosis, Supernumerary tooth, Absent eyebrow, Sparse hair,... |
OMIM:268400 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Sparse hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Curly hair, Hyperhidr... |
OMIM:615280 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Narrow mouth, Failure to thrive, Macrodontia of permanent maxillary central ... |
OMIM:257850 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Absent facial hair, Sparse facial hair, Low posterior hairline |
ORPHA:2183 |
Pontocerebellar Hypoplasia, Type 10 |
|
High palate, Kyphoscoliosis, Long palpebral fissure, Long eyelashes, Thin upper lip vermilion, Hi... |
OMIM:615803 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Ermine Phenotype |
|
Albinism, White eyelashes, White hair, White eyebrow |
OMIM:227010 |
Naxos Disease |
|
Woolly hair, Sparse eyebrow, Diffuse palmoplantar hyperkeratosis, Sparse body hair, Subungual hyp... |
OMIM:601214 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Nail dysplasia, Sparse eyebrow, Sparse eyelashes, Trichiasis, Absent pubic hair, Microdontia, Fur... |
OMIM:148210 |
Dyskeratosis Congenita, Digenic |
|
Failure to thrive, Sparse eyelashes, Alopecia, Abnormality of the dentition, Bilateral ptosis, Na... |
OMIM:620040 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair |
OMIM:613576 |
Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair |
ORPHA:261483 |
Idiopathic Trachyonychia |
|
Nail pits, Toenail dysplasia, Patchy alopecia, Abnormality of the periungual region, Fragile nail... |
ORPHA:79153 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Flotch Syndrome |
|
Blepharitis, Sparse eyelashes, Abnormal eyelash morphology, Abnormality of the nail, Abnormal eye... |
ORPHA:2045 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Wide mouth, Failure to thrive, Low anterior hairline, Diastema, Scoliosis, Downturned corners of ... |
ORPHA:329224 |
Incontinentia Pigmenti |
|
Nail dysplasia, Kyphoscoliosis, Sparse hair, Supernumerary nipple, Alopecia, Hypodontia, Hemivert... |
OMIM:308300 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Coarse hair, Hyperkeratosis with erythema, Sparse hair |
OMIM:118650 |
Classic Mycosis Fungoides |
|
Abnormality of the nail, Abnormal eyelid morphology, Alopecia |
ORPHA:2584 |
Cohen Syndrome |
|
Kyphosis, Gingival overgrowth, Low anterior hairline, Thick eyebrow, Aplasia/Hypoplasia of the to... |
ORPHA:193 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Blepharitis, Ectropion, Sparse eyebrow, Sparse eyelashes, Nail dystrophy, Dystrophic fingernails,... |
OMIM:308800 |
Intellectual Disability, Buenos-Aires Type |
|
High palate, Dental malocclusion, Open bite, Abnormal fingernail morphology, Downslanted palpebra... |
ORPHA:3079 |
Focal Facial Dermal Dysplasia Type Ii |
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Sparse eyebrow, Trichiasis, Curved linear dimple below the lower lip, Distichiasis, Generalized h... |
ORPHA:398173 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
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Absent nipple, Absent hair, Sparse hair |
OMIM:614940 |
Luo-Schoch-Yamamoto Syndrome |
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Wide mouth, Narrow mouth, Ectropion of lower eyelids, Failure to thrive, Short philtrum, Long eye... |
OMIM:619460 |
Rodrigues Blindness |
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Fine hair, Sparse hair |
OMIM:268320 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
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Failure to thrive, Long eyelashes |
OMIM:616069 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
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High palate, Failure to thrive, Decreased body weight, Long palpebral fissure, Short neck, Long p... |
OMIM:617452 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Nail dysplasia, Absent eyebrow, Cleft palate, Alopecia, Abnormality of the vertebral column, Scol... |
OMIM:308205 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Sparse scalp hair, Narrow mouth, Kyphoscoliosis, Sparse eyebrow, Sparse eyelashes, Telecanthus, E... |
ORPHA:75496 |
Trisomy 20P |
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Abnormality of the dentition, Coarse hair, Short philtrum, Short neck, Microdontia, Platyspondyly... |
ORPHA:261318 |
Piebaldism |
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Hypopigmentation of hair, Long philtrum, White eyebrow, White eyelashes, Synophrys, Piebaldism, W... |
ORPHA:2884 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
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Frontal upsweep of hair, Widely spaced teeth, Long eyelashes, Synophrys, Exaggerated cupid's bow,... |
OMIM:619286 |
Clark-Baraitser syndrome |
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Kyphosis, Maxillary lateral incisor microdontia, Prominent median palatal raphe, Scoliosis, Downs... |
OMIM:300602 |
Mantle Cell Lymphoma |
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Weight loss |
ORPHA:52416 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
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Alopecia totalis, Nail dystrophy |
ORPHA:1366 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
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Nail dysplasia, Narrow mouth, Oral mucosal blisters, Alopecia, Abnormal esophagus morphology, Spo... |
OMIM:226600 |
Coffin-Siris Syndrome 9 |
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Sparse scalp hair, High palate, Hypertrichosis, Hypoplastic fifth fingernail, Short palpebral fis... |
OMIM:615866 |
9q subtelomeric deletion syndrome |
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Protruding tongue, Synophrys |
DECIPHER:52 |
Chanarin-Dorfman Syndrome |
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Ectropion, Everted lower lip vermilion, Alopecia |
OMIM:275630 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
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Kyphoscoliosis, Tongue atrophy |
ORPHA:496689 |
Desbuquois Syndrome |
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Short neck, Abnormal eyelash morphology, Scoliosis, Sparse hair |
ORPHA:1425 |
Costello Syndrome |
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Hypoplastic toenails, Narrow palate, Woolly hair, Macroglossia, Abnormality of the dentition, Sho... |
ORPHA:3071 |
Kennerknecht syndrome |
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High palate, Abdominal obesity, Malrotation of colon, Hypodontia, Short neck, Thoracolumbar scoli... |
OMIM:600908 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Sparse scalp hair, Hypoplastic toenails, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Alopec... |
ORPHA:544488 |
Epidermolysis Bullosa, Lethal Acantholytic |
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Alopecia universalis, Anonychia, Neonatal death, Absent fingernail, Alopecia totalis, Natal tooth |
OMIM:609638 |
Roifman Syndrome |
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Irregular vertebral endplates, Biconvex vertebral bodies, Long palpebral fissure, Long philtrum, ... |
OMIM:616651 |
Short Syndrome |
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Sparse hair, Alopecia, Abnormality of the dentition, Microdontia, Telecanthus, Weight loss, Abnor... |
ORPHA:3163 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
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Ectropion, Everted lower lip vermilion, Alopecia, Abnormal hair morphology, Thin nail, Small nail |
OMIM:242100 |
Bachmann-Bupp Syndrome |
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Sparse scalp hair, High palate, Absent eyebrow, Sparse eyelashes, Downslanted palpebral fissures,... |
OMIM:619075 |
Johanson-Blizzard Syndrome |
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Anal atresia, Malabsorption, Failure to thrive, Alopecia, Abnormality of the dentition, Oligodont... |
ORPHA:2315 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
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Alopecia, Hyperconvex fingernails, Hypoplastic fingernail, Abnormal dental enamel morphology, Ptosis |
ORPHA:257 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
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Vertebral segmentation defect, Kyphosis, Sparse hair, Alopecia, Upslanted palpebral fissure, Scol... |
ORPHA:1005 |
Focal Dermal Hypoplasia |
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Hiatus hernia, Sparse hair, Cleft palate, Delayed eruption of teeth, Anteriorly placed anus, Clef... |
OMIM:305600 |
Ichthyosis, Hystrix-Like, With Deafness |
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Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp |
OMIM:602540 |
Autosomal Dominant Robinow Syndrome |
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Alopecia, Hemivertebrae, Short philtrum, Short neck, Fingernail dysplasia, Downslanted palpebral ... |
ORPHA:3107 |
Vogt-Koyanagi-Harada Disease |
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