Thyroid Carcinoma, Familial Medullary |
|
Medullary thyroid carcinoma |
OMIM:155240 |
Thyroid Cancer, Nonmedullary, 2 |
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Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Follicular thyroid carcinoma |
OMIM:188470 |
Thyroid Cancer, Nonmedullary, 3 |
|
Non-medullary thyroid carcinoma |
OMIM:606240 |
Thyroid Cancer, Nonmedullary, 5 |
|
Non-medullary thyroid carcinoma |
OMIM:616535 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
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Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Thyroid Cancer, Nonmedullary, 1 |
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Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Thyroid Dyshormonogenesis 3 |
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Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Thyroid Dyshormonogenesis 2A |
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Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Hypotrichosis 1 |
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Sparse eyelashes, Sparse axillary hair, Abnormality of the dentition, Sparse pubic hair, Sparse e... |
OMIM:605389 |
Thyroid Dyshormonogenesis 5 |
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Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
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Hypothyroidism, Goiter |
OMIM:274800 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Microdontia of primary teeth, Fine hair, Agenesis of permanent teeth, ... |
OMIM:189500 |
Woolly Hair, Autosomal Recessive 3 |
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Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic... |
ORPHA:2722 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair, Hypodontia |
OMIM:246500 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
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Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Woolly Hair Nevus |
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Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Hypotrichosis 4 |
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Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Uncombable Hair Syndrome 3 |
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Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Hypotrichosis 11 |
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Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
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Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Cardiofaciocutaneous Syndrome 2 |
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Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair |
OMIM:615278 |
Ringed Hair Disease |
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Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Hypodontia-Dysplasia Of Nails Syndrome |
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Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to... |
ORPHA:2228 |
Hypotrichosis 9 |
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Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Fetal Iodine Deficiency Disorder |
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Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Hypotrichosis 10 |
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Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Atrichia With Papular Lesions |
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Sparse hair |
OMIM:209500 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
Ectodermal Dysplasia 6, Hair/Nail Type |
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Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Naxos Disease |
|
Sparse scalp hair, Curly hair, Abnormality of hair texture, Cleft upper lip, Woolly hair |
ORPHA:34217 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
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Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia, Cleft palate |
OMIM:600331 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
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Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Periodo... |
ORPHA:1008 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
Ectodermal Dysplasia 9, Hair/Nail Type |
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Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
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Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... |
OMIM:602400 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
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Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormality of the denti... |
OMIM:604379 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
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Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse... |
ORPHA:401911 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Syndromic X-Linked Intellectual Disability 7 |
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Abnormal dental morphology, Cryptorchidism, Hypogonadism, Tooth malposition, Sparse body hair |
ORPHA:85274 |
Tooth Agenesis, Selective, 8 |
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Microdontia, Sparse hair, Selective tooth agenesis, Sparse eyebrow |
OMIM:617073 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Brittle hair, Abnormality of the philtrum, Sparse eyelashes, Cleft upper lip, Sparse eyebrow, Abn... |
OMIM:225060 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Conical tooth, Absent eyelashes, Nail dystrophy, Sparse hair, Male hyp... |
OMIM:618625 |
Blepharochalasis And Double Lip |
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Goiter |
OMIM:109900 |
Crandall Syndrome |
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Alopecia, Brittle hair, Fine hair, Hypogonadism, Pili torti, Abnormal testis morphology, Sparse b... |
ORPHA:202 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
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Cryptorchidism, Fine hair, Sparse hair, Hypodontia, Microdontia |
ORPHA:1174 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... |
ORPHA:181 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Chand Syndrome |
|
Curly hair, Commissural lip pit, Nail dysplasia |
OMIM:214350 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Pierre-Robin sequence, Cleft palate, Anteriorly placed anus, Everted lower lip vermil... |
OMIM:619980 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
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Curly hair, Thick eyebrow, Curly eyelashes, Multiple rows of eyelashes, Narrow philtrum, Thick lo... |
ORPHA:163654 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal dental morphology, Abnormal eyelash morphology, Hypodontia, Sparse hair, Abnormal toenai... |
ORPHA:1818 |
Trichodental Dysplasia |
|
Brittle hair, Odontodysplasia, Slow-growing hair, Conical tooth, Fine hair, Hypodontia, Sparse hair |
OMIM:601453 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair, Everted lower lip vermilion |
OMIM:278200 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor... |
ORPHA:573 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair, Tiger tail... |
OMIM:619692 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cr... |
ORPHA:3363 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
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Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypodontia, Sparse h... |
OMIM:129490 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormality of the dentitio... |
OMIM:615885 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
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Thin upper lip vermilion, Widow's peak, Long philtrum, Sparse hair, Thick eyebrow |
OMIM:606242 |
Bamforth-Lazarus Syndrome |
|
Abnormal hair quantity, Thyroid agenesis, Cleft palate, Congenital hypothyroidism |
ORPHA:1226 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Hawkinsinuria |
|
Sparse hair, Hypothyroidism, Fine hair |
ORPHA:2118 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
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Thin upper lip vermilion, Curly hair, Tented upper lip vermilion, Sparse eyebrow, Synophrys, Thic... |
OMIM:620075 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary t... |
ORPHA:248 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, L... |
OMIM:275400 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Hypotrichosis 8 |
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Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fine hair, Fragile nails, Abnormality of the dentition |
ORPHA:500166 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormality of the dentition, Abnorm... |
OMIM:614929 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair, Widely spaced teeth, Smooth philtrum |
OMIM:616351 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, High, narrow palate, Low ... |
ORPHA:2183 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... |
OMIM:615280 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Dystrophic fingernails, D... |
ORPHA:1882 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft lip, Cleft palate, Nail dystrophy... |
ORPHA:2890 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Thin vermilion border, Hypogonadism, Sparse body hair, Decreased testicular size |
ORPHA:261483 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Hypogonadism |
ORPHA:2574 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Thick upper lip vermili... |
OMIM:227260 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Downturned corners of mouth, Sparse hair, Distichiasis, ... |
ORPHA:79133 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Leopard Syndrome 2 |
|
Curly hair, Thick lower lip vermilion |
OMIM:611554 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Abnormal dental morphology, Everted lower lip vermilion, Fingernail dysplasia, Sparse h... |
ORPHA:2251 |
Noonan Syndrome 5 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Fine hair, Wide mouth, Thick vermilion border, Small ... |
OMIM:611553 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary teeth, Abno... |
ORPHA:1810 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe... |
OMIM:613573 |
Björnstad Syndrome |
|
Alopecia, Brittle hair, Hypogonadism |
ORPHA:123 |
Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairline, Sparse hair |
OMIM:613224 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
High, narrow palate, Cryptorchidism, Wide mouth, Downturned corners of mouth, Sparse hair |
OMIM:273390 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Curly hair, Cryptorchidism, Wide mouth, Long philtrum, Open mouth, Smoo... |
OMIM:616638 |
Cardiofaciocutaneous Syndrome 3 |
|
Wide mouth, Curly hair |
OMIM:615279 |
Copper Deficiency, Familial Benign |
|
Curly hair, Early balding |
OMIM:121270 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Cryptorchidism, Narrow palate, Wide mouth, Thick vermilion border, High palate, Short... |
OMIM:619435 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Hypodontia, Small nail,... |
OMIM:224750 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Hypodontia, Sparse hair, Aplasia/Hyp... |
ORPHA:50944 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious ... |
ORPHA:1897 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Curly hair, Cryptorchidism, Wide mouth, Long philtrum, Open mouth, Intestina... |
ORPHA:457485 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Cryptorchidism |
OMIM:616559 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, Sparse hair |
ORPHA:2266 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Curly hair, Thick eyebrow, Short lingual frenulum, Highly arched eyebro... |
OMIM:617360 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, High, narrow palate, Cryptorchidism, Low posterior hairline, Wide mou... |
OMIM:619745 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... |
OMIM:262000 |
2Q32Q33 Microdeletion Syndrome |
|
Dental crowding, Cleft palate, Fine hair, Oligodontia, Thin vermilion border, High palate, Narrow... |
ORPHA:251019 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Hypertrichosis |
OMIM:201550 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Sparse hair, Uncombable hair |
ORPHA:1264 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Wide mouth, Thick vermilion border, High palate, Short philtrum |
OMIM:300986 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the... |
OMIM:129500 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Oligodontia, Thick vermilion border, Thin ... |
OMIM:617392 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Nail dystrophy, Enamel hypoplasia, Anonychia, ... |
ORPHA:79402 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Dental crowding, Cholelithiasis, Woolly hair, Synophrys, Downturned corners of mouth,... |
OMIM:618268 |
Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair, Hypogonadism, Narrow mouth |
OMIM:618681 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased testicular size, Cryptorchidism, Increased circulating gonadotropin level, Thin vermili... |
OMIM:300869 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, High, narrow palate, Cry... |
ORPHA:3051 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip, Sparse eyebrow, Small nail... |
OMIM:129400 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Chops Syndrome |
|
Curly hair, Thick hair, High, narrow palate, Synophrys, Cryptorchidism, Downturned corners of mou... |
OMIM:616368 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter |
ORPHA:319487 |
Leopard Syndrome 3 |
|
Curly hair, Low posterior hairline |
OMIM:613707 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... |
OMIM:613102 |
Dermoodontodysplasia |
|
Sparse scalp hair, Tooth agenesis, Fingernail dysplasia, Trichodysplasia, Microdontia, Toenail dy... |
ORPHA:1660 |
Gand Syndrome |
|
Wide mouth, Thin upper lip vermilion, Short philtrum, Sparse hair |
OMIM:615074 |
Noonan Syndrome 7 |
|
Curly hair, Thick vermilion border, Abnormal esophagus morphology, Low posterior hairline |
OMIM:613706 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Oculodentodigital Dysplasia |
|
Curly hair, Median cleft lip, Brittle hair, Abnormal dental enamel morphology, Premature loss of ... |
ORPHA:2710 |
Noonan Syndrome 4 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermilion bord... |
OMIM:610733 |
Noonan Syndrome 8 |
|
Curly hair, Cryptorchidism |
OMIM:615355 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and... |
OMIM:261900 |
Filippi Syndrome |
|
Cryptorchidism, Hypertrichosis, Thin vermilion border, Short philtrum, Hypodontia, Sparse hair, M... |
OMIM:272440 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Hypodontia, Small nail, Nail dysplasia, Sparse hair, High anterio... |
OMIM:119580 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Thin upper lip vermilion, Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, D... |
OMIM:617506 |
Fg Syndrome 3 |
|
Pyloric stenosis, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair |
OMIM:300406 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair, High palate |
ORPHA:85184 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Abnormality of the dentition, Cleft upper lip, Hypogonadism, Hypoplastic nipples, Small nail, Spa... |
OMIM:273400 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Ascher Syndrome |
|
Abnormal upper lip morphology, High palate, Hypothyroidism, Goiter |
ORPHA:1253 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Ovarian neoplasm, Macroglossia,... |
ORPHA:2221 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermilion border, Nail dystr... |
OMIM:601957 |
Congenital Short Bowel Syndrome |
|
Intestinal hypoplasia, Sparse hair, Intestinal malrotation |
ORPHA:2301 |
Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Abnormality of the dentition, Cleft upper lip, Cryptorchidis... |
OMIM:304110 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/... |
ORPHA:1006 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Wide mouth, Widely spaced primary teeth, Reduced... |
OMIM:300953 |
Chand Syndrome |
|
Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi... |
ORPHA:1401 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Downturned corners of mouth... |
ORPHA:1807 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Abnormal dental morphology, Abnormal dental enamel morphology, Highly arched eyebrow, C... |
ORPHA:3253 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Hypogonadotropic hypogonadism, Cleft palate, Abnormal toenail morphology, Abnormality o... |
ORPHA:494 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Decreased... |
OMIM:146110 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Abnormality of the dentition, Open bite, Absent ey... |
OMIM:115150 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Supernumerary tooth, Submucous cleft hard palate, Thick lowe... |
OMIM:617412 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Sparse body hair, Aplasia/Hypoplasia... |
ORPHA:2850 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Sparse eyeb... |
ORPHA:884 |
Androgen Insensitivity Syndrome |
|
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... |
OMIM:300068 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Palatine myxoma, Pituitary adenoma, Pheochromo... |
OMIM:160980 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... |
OMIM:308750 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Tracheoesophageal fistula, Gingival overgrowth, Fine hair, Furrowed tongue, Sparse hair |
ORPHA:1839 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Tented upper lip vermilion, Widow's peak, Thick lower lip vermilion, Fine hair, High palate, Hori... |
OMIM:615828 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Villous atrophy, Brittle hair, Narrow mouth, Fine hair, Wide mouth, Long philtrum, Sp... |
OMIM:222470 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Everted upper lip vermilion, Sparse eyelashes, Conical tooth, Sparse eyebrow, Oligodontia, Thick ... |
OMIM:224900 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Oligodontia, Everted lower lip vermilion, Hypodontia, Sparse hair, A... |
OMIM:614940 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ... |
ORPHA:59303 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Celiac disease, Abnormality of the thyroid gland, Primary adrenal i... |
ORPHA:3143 |
Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Conical tooth, Absent eyelash... |
OMIM:614941 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h... |
ORPHA:75389 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Pili torti, Fine hair |
ORPHA:1573 |
Pachyonychia Congenita 2 |
|
Natal tooth, Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eye... |
OMIM:167210 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor |
OMIM:616390 |
Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Abnormality of the dentition, Widow's peak, Orofacial cleft, Low pos... |
ORPHA:1520 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Thin upper lip vermilion, Sparse eyebrow, Long philtrum, Sparse hair, Woolly hair, Trichorrhexis ... |
OMIM:619691 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Hypoplasia of teeth, N... |
OMIM:234050 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nip... |
ORPHA:1071 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Brittle hair, Colitis, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis ... |
OMIM:614602 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Carious teeth, Absent eyelashes, Cleft palate, Everted lower lip vermil... |
ORPHA:2316 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Coarse hair, Brittle hair, Sparse hair |
ORPHA:1883 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Thin upper lip vermilion, Sparse eyebrow, Wide mouth, Sparse hair, Smooth philtrum |
OMIM:619989 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Alopecia, Abnormal fingernail morphology, Malabsorption, Hypoplastic toenai... |
ORPHA:2930 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
Cardiocranial Syndrome, Pfeiffer Type |
|
High, narrow palate, Abnormal hair whorl, Cryptorchidism, Sparse hair, Bifid uvula, Broad philtrum |
ORPHA:2872 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair |
OMIM:618535 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Synophrys, Cleft palate, Increased serum testosterone level, Shor... |
ORPHA:247768 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Short phi... |
OMIM:619950 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, High, narrow palate, Supernumerary tooth, Low anterior hairline, Oligodontia, U... |
ORPHA:1787 |
Cranioectodermal Dysplasia |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:1515 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Cryptorchid... |
OMIM:614607 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Tooth agenesis, Everted lower lip vermilion, Abnormality ... |
ORPHA:2963 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair, High palate |
ORPHA:50812 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched e... |
ORPHA:444077 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Multinodular goiter, Nail dystrophy, Premature loss of teeth, Alopecia of scalp |
OMIM:618373 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Low anterior hairline, Dental malocclusion, Narrow palate, Ovarian neoplasm, Long ey... |
OMIM:617883 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the thyroid gland, Hypogonadism, Type II diabetes mellitus, Sparse body hair, Decr... |
ORPHA:2234 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Cryptorchidism, Fine hair, Downturned corners of mouth, Oligodontia, Narrow mouth, Sparse hair, H... |
OMIM:616817 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Oligodont... |
OMIM:608615 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
Lelis Syndrome |
|
Carious teeth, Yellow nails, Absent lower eyelashes, Furrowed tongue, Hypodontia, Nail dystrophy,... |
ORPHA:140936 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Diabetes mellitus, Synophrys, Low anterior hairline, Hypoplasia of teet... |
ORPHA:391408 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Cryptorchidism, Loose anagen hair, Long eyelashes, High palate, Sp... |
OMIM:607721 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Low anterior hairline, Long eyelashes, Everted lower lip vermilion, Sparse hair, H... |
OMIM:616819 |
Weaver Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Cryptorchidism, ... |
ORPHA:3447 |
Anauxetic Dysplasia 2 |
|
Macroglossia, Hypodontia, Nail dysplasia, Small nail, Sparse hair |
OMIM:617396 |
Split-Hand/Foot Malformation 3 |
|
Ridged nail, Cleft palate, High palate, Nail dystrophy, Nail dysplasia, Narrow mouth |
OMIM:246560 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Broad eyebrow, Tented upper lip vermilion, Highly arched eyebrow, Crypt... |
OMIM:619244 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Carious teeth, Nail dystrophy, Sparse hair, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... |
OMIM:228300 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... |
OMIM:617337 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Cleft palate, Congenital hypothyroidism |
OMIM:241850 |
Even-Plus Syndrome |
|
Highly arched eyebrow, Synophrys, High palate, Hypodontia, Sparse hair, Anal atresia |
OMIM:616854 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Highly arched eyebrow, Cleft lip, Cleft palate, Short philtrum, Evert... |
OMIM:616898 |
Noonan Syndrome 10 |
|
Sparse eyebrow, Curly hair, High palate, Cryptorchidism |
OMIM:616564 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... |
OMIM:308700 |
Noonan Syndrome 2 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, High palate |
OMIM:605275 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... |
ORPHA:3353 |
Aredyld Syndrome |
|
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the eyebrow, Type I diabetes mellitus, T... |
ORPHA:1133 |
Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin... |
ORPHA:251393 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Slow-growing hair, Thin nail, Concave nail, ... |
OMIM:190350 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conical tooth,... |
OMIM:106260 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Dental crowding, Insulin-resistant diabetes mellitus, Hyperinsulinemia, H... |
OMIM:608612 |
Giant Axonal Neuropathy |
|
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi |
ORPHA:643 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Abnormality of p... |
OMIM:257980 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Thin upper lip vermilion, Fine hair, Downturned corners of mouth, Long eyelashes, Short philtrum,... |
ORPHA:231137 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Brittle hair, Carious teeth, Hypoplasia of teeth, Wide mouth, Coarse h... |
ORPHA:50814 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Sparse hair |
OMIM:620001 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:870 |
Tonne-Kalscheuer Syndrome |
|
Concave nail, Cryptorchidism, Velopharyngeal insufficiency, Fine hair, Downturned corners of mout... |
OMIM:300978 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Abnormal tongue morphology, Insulin-resistant diabetes mellitus, Hyper... |
ORPHA:2457 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Down... |
ORPHA:2107 |
Fetal Hydantoin Syndrome |
|
Cryptorchidism, Cleft palate, Low posterior hairline, Wide mouth, Coarse hair, Everted lower lip ... |
ORPHA:1912 |
Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Everted lower lip vermilion, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:242300 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... |
ORPHA:659 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Thick eyebrow, Synophrys, Short philtrum, Sparse hair, Thick upper lip vermilion, Smooth philtrum |
OMIM:611091 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Thin vermilion border, Short philtrum, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
Cowden Syndrome 7 |
|
Intestinal polyposis, Trichilemmoma, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashi... |
OMIM:616858 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, Supernumerary tooth, Leukonychia,... |
ORPHA:77258 |
Rodrigues Blindness |
|
Sparse hair, Tooth malposition, Fine hair |
OMIM:268320 |
Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hamartomatous polyposis, Ovar... |
OMIM:615108 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Cheilitis, Alopecia universalis |
OMIM:619208 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries, High palate, Sparse hair, High anterior hairline |
ORPHA:284180 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Fine hair, Fragile nails, Tig... |
OMIM:601675 |
Zttk Syndrome |
|
Curly hair, Absent gallbladder, Abnormality of the dentition, Sparse eyebrow, Submucous cleft har... |
OMIM:617140 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... |
ORPHA:226313 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Polycystic ovaries |
OMIM:268020 |
Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Tented upper lip vermilion, Synophrys, Low posterior hairline, Downturned corners of mouth, Short... |
OMIM:619320 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of the dentition, Abnorm... |
ORPHA:96169 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Short uvula, Cleft palate, Agenesis of permanent teeth, Fine hair, Fused ... |
OMIM:614091 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Abnormality of the dentition, Conical tooth, Cryptorchidism, Fine hair, Hypogonadism, B... |
ORPHA:228390 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Thick lower lip vermilion, High ... |
OMIM:162300 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Thin upper lip vermilion, Patchy alopecia, Long philtrum, Sparse hair, Hypothyroidism |
OMIM:617763 |
Complete Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse pubic hair, Bilatera... |
ORPHA:99429 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Leukonychia, Tooth agenesis, Nail dystrophy, Woolly hair, Fragile nails, Gingival recession |
OMIM:615821 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Hypogonadotropic hyp... |
ORPHA:52901 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Slow-growing hair, Abnormal hair morphology, Cryptorchidism, Abnormal palate morphology, Uncombab... |
ORPHA:3082 |
Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hamartomatous polyposis, Ovar... |
OMIM:615109 |
Tyshchenko Syndrome |
|
Thick hair, Supernumerary nipple, High, narrow palate, Cryptorchidism, Low anterior hairline, Cle... |
OMIM:615102 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Abnormal palate morphology, Fine hair |
ORPHA:3236 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... |
ORPHA:163634 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Sparse hair, Smoot... |
OMIM:190351 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit... |
ORPHA:978 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the... |
ORPHA:432 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Orofacial cleft, Hypogonadism, Sparse hair, Decreased testicular size, Thick eyebrow |
ORPHA:127 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Thin upper lip vermilion, Curly hair, Abnormality of the dentition, Abnormal circulating thyroid ... |
ORPHA:480880 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Fine hair, Wide mouth, Sparse or absent eyelashes, Thin ver... |
ORPHA:217346 |
Monosomy 18P |
|
Alopecia, Carious teeth, Cleft palate, Low posterior hairline, Downturned corners of mouth, Short... |
ORPHA:1598 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Thin upper lip vermilion, Alopecia, Abnormal eyebrow morphology, Sparse facial hair, Streak ovary... |
ORPHA:2232 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Alopecia, Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, High, narr... |
ORPHA:2108 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Carious teeth, Cryptorchidism,... |
OMIM:607812 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Narrow palate, Hypoplasia of teeth, Wide mouth, Fine hair, Thick vermilion border, Sho... |
OMIM:620250 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Sparse hair |
OMIM:614105 |
Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Angular cheilitis, Atrichia |
OMIM:619016 |
Hamamy Syndrome |
|
Hypoparathyroidism, Thin upper lip vermilion, Abnormal number of hair whorls, Sparse eyelashes, S... |
OMIM:611174 |
Papillon-Lefèvre Syndrome |
|
Severe periodontitis, Abnormal fingernail morphology, Premature loss of primary teeth, Abnormalit... |
ORPHA:678 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Fine hair |
OMIM:272300 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair |
OMIM:616943 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Abnormality of hair texture, Carious teeth, Narrow mouth, Coarse hair, High palate,... |
OMIM:219200 |
Macs Syndrome |
|
Irregular dentition, Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism, Gi... |
OMIM:613075 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Everted upper lip vermilion, Brittle hair, Absent nipple, Abnormal oral mucosa mo... |
OMIM:305100 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, Tented upper lip vermilion, Aganglionic megacolon, White eyelashes, Whi... |
ORPHA:894 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Brittle hair, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Eclabion, T... |
OMIM:616395 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypergonad... |
OMIM:241080 |
Joubert Syndrome 37 |
|
Sparse hair, Cryptorchidism, High palate, Decreased testicular size |
OMIM:619185 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Ridged nail, Alopecia, Supernumerary nipple, Conical tooth, Nail pits,... |
OMIM:308300 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair, Abnormality of the dentition |
ORPHA:177 |
Holoprosencephaly 11 |
|
Cleft lip, Synophrys, Thick eyebrow, Cleft palate |
OMIM:614226 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Decreased response to growth hormone stimulation test, Deep philtrum, Synophrys,... |
OMIM:619503 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Oligodontia, Bile duct proliferation, Hyp... |
OMIM:607626 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair |
ORPHA:69735 |
Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormality of... |
ORPHA:3071 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Pheochromocytoma, Elevated circulating calcitonin concentration, Nod... |
ORPHA:1332 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Conical tooth, Inflammation of the large intestine, Nail dystrophy, Sparse hair, Hypopituitarism |
ORPHA:98813 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Abnormality of hair textu... |
ORPHA:2752 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Cleft palate, Fine hair,... |
ORPHA:1812 |
Distal Duplication 6P |
|
Abnormal hair quantity, Abnormal eyelash morphology, Fine hair, Thin vermilion border, Narrow mouth |
ORPHA:1745 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Decreased response to grow... |
OMIM:146510 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Goiter |
ORPHA:142 |
Lamellar Ichthyosis |
|
Abnormality of the dentition, Everted lower lip vermilion, Sparse hair, Abnormality of the nail, ... |
ORPHA:313 |
Glass Syndrome |
|
Dental crowding, Conical tooth, Pierre-Robin sequence, Gingival overgrowth, Cleft palate, Oligodo... |
OMIM:612313 |
Bathing Suit Ichthyosis |
|
Eclabion, Alopecia, Sparse hair, Nail dystrophy |
ORPHA:100976 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal dental morphology, Abnormal fingernail morphology, Open bite, Dental malocclusion, Hyper... |
ORPHA:3079 |
Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hamartomatous polyposis, Ovar... |
OMIM:158350 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Malabsorption, Sparse eyebrow, Abnormal hair morphology, Fin... |
ORPHA:634 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Concave nail, Pyloric stenosis, Thick lower lip vermilion,... |
OMIM:218040 |
Chromosome 5P13 Duplication Syndrome |
|
Low posterior hairline, Downturned corners of mouth, High palate, Short philtrum, Sparse hair |
OMIM:613174 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, ... |
OMIM:608156 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Onycholysis, Nail dystrophy |
OMIM:270300 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent ... |
OMIM:268400 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Brittle hair, Sparse eyebrow, Hydrocele testis, Narrow mouth, Neonatal death |
OMIM:618810 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Sparse eyelashes, Dental malocclusion, Hypoplasia of ... |
OMIM:257850 |
Cerebrofaciothoracic Dysplasia |
|
Thick eyebrow, Abnormal hair pattern, Cleft upper lip, Synophrys, Cleft palate, Low posterior hai... |
ORPHA:1394 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
Short Syndrome |
|
Alopecia, Diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the dentition, Spa... |
ORPHA:3163 |
Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
Osteogenesis Imperfecta, Type Xx |
|
Tented upper lip vermilion, Highly arched eyebrow, Narrow palate, Agenesis of permanent teeth, Hi... |
OMIM:618644 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Dental crowding, Abnormality of the dentition, Narrow mouth,... |
ORPHA:251028 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft pala... |
OMIM:164200 |
Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
Acrogeria |
|
Fine hair |
ORPHA:2500 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Cleft palate, Glo... |
OMIM:616367 |
Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Abnormal hair pattern, Abnormality of the dentition, Carious teeth, Cryptorchidi... |
ORPHA:1786 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Thin upper lip vermilion, Fine hair, Wide mouth, Widely-spaced maxillary central incisors, High p... |
ORPHA:363686 |
Alstrom Syndrome |
|
Alopecia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
OMIM:203800 |
Adiposis Dolorosa |
|
Sparse pubic hair, Hypothyroidism, Xerostomia, Sparse axillary hair |
ORPHA:36397 |
Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Coarse hair, Everted lower lip vermilion, Hirsutism, Hypertrichosis |
OMIM:252930 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair, Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion ... |
OMIM:619184 |
Netherton Syndrome |
|
Sparse scalp hair, Villous atrophy, Brittle hair, Brittle scalp hair, Sparse eyebrow, Intestinal ... |
OMIM:256500 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Triangular mouth |
OMIM:617988 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypogonadotropic hypogonadism, Tracheoesophageal fistula, Abnormal palate morphology, Sparse body... |
ORPHA:3068 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Gingival overgrowth, Fine hair, Long philtrum, Smooth philtrum |
OMIM:619428 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin ve... |
OMIM:212066 |
Limb-Mammary Syndrome |
|
Cleft palate, Hypoplastic nipples, Nail dysplasia, Hypodontia, Bifid uvula |
OMIM:603543 |
Teebi-Shaltout Syndrome |
|
Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairline, Cleft palat... |
OMIM:272950 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... |
ORPHA:90674 |
Lymphatic Malformation 5 |
|
Yellow nails, Cleft palate |
OMIM:153200 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Nail dystrophy, H... |
ORPHA:436252 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Erythematous oral mucosa, Furrowed tongue, Coarse hair, Nail dystrophy, Nail dysplasia,... |
OMIM:158310 |
Treacher-Collins Syndrome |
|
Low anterior hairline, Glossoptosis, High palate, Hypoplasia of the thymus, Branchial fistula, Ab... |
ORPHA:861 |
Marshall Syndrome |
|
Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, Thick lower lip vermilion, Cleft ... |
ORPHA:560 |
Orofaciodigital Syndrome I |
|
Dry hair, Median cleft lip, Alopecia, Hamartoma of tongue, Cleft upper lip, Carious teeth, Pancre... |
OMIM:311200 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Sparse pubic hair, Increased circulating gonadotropin level, Decreased serum estrad... |
ORPHA:243 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Fine hair, Abnormal fingernail morphology, Abnormality of the dentition |
ORPHA:1806 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Submucous cleft hard palate, Fine hair, Type II diabetes mellitus, Delayed puberty,... |
OMIM:618891 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Diabetes mellitus, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip... |
OMIM:601701 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Oral leukoplakia, Ridged fingernail |
OMIM:268130 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Carious teeth, Sparse eyebrow, Cryptorchidism, Thin vermilion border, Short phi... |
OMIM:613026 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
Adult Syndrome |
|
Premature loss of permanent teeth, Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary h... |
OMIM:103285 |
Bainbridge-Ropers Syndrome |
|
Thin upper lip vermilion, Thick eyebrow, Dental crowding, Intestinal malrotation, Highly arched e... |
OMIM:615485 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Tooth agenesis, Nail dystrophy, Woolly hair |
OMIM:605676 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... |
OMIM:150400 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Hypogonadism, Sparse hair |
OMIM:616200 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Median cleft lip, Brittle hair, Abnormal dental enamel morphology, Accessory oral frenu... |
ORPHA:2750 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Sparse hair, Reduced circulating growth hormone concentration, Eosinophilic infiltration of the e... |
OMIM:615508 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... |
OMIM:171400 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... |
OMIM:616449 |
Dyskeratosis Congenita |
|
White hair, Premature graying of hair, Periodontitis, Sparse hair, Alopecia, Abnormal fingernail ... |
ORPHA:1775 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Coarse hair, High palate, Long philtrum |
OMIM:605309 |
Scarf Syndrome |
|
Cryptorchidism, Low posterior hairline, Hypoplastic nipples, Long philtrum, Sparse hair, Enamel h... |
ORPHA:3134 |
Eec Syndrome |
|
Slow-growing hair, Abnormal dental enamel morphology, Decreased response to growth hormone stimul... |
ORPHA:1896 |
Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
Opitz-Kaveggia Syndrome |
|
Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip, Pyloric stenosis, Crypto... |
OMIM:305450 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Broad lateral eyebrow, Curly hair, Absent gallbladder, Sparse eyebrow, Cleft palate, Downturned c... |
ORPHA:500150 |
Ogden Syndrome |
|
Everted upper lip vermilion, Cryptorchidism, High, narrow palate, Fine hair, Aplasia/Hypoplasia o... |
ORPHA:276432 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Macroglossia, Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
Trisomy 20P |
|
Smooth philtrum, Thick eyebrow, Macroorchidism, Thick hair, Highly arched eyebrow, Abnormality of... |
ORPHA:261318 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Conical tooth, Sparse eyebrow, Bilateral cryptorchidism, Fine... |
OMIM:613451 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Sparse axillary hair, Elevated circula... |
ORPHA:90796 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Sparse scalp hair, Sparse eyelashes, Selective tooth agenesis, Sparse eyebrow, High,... |
OMIM:234100 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast aplasia, Elevated circu... |
ORPHA:3044 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... |
OMIM:129900 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Intestinal malrotation, Cleft palate, Euthyroid goiter, High p... |
OMIM:113650 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... |
ORPHA:209905 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Downturned corners of mouth, Coarse hair, Thick vermilion border |
ORPHA:1185 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Hyperconvex nail, Long philtrum |
OMIM:619721 |
Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Polycystic ovaries, Type I diabetes mellitus, Nodular goiter, Hirsutism |
ORPHA:371428 |
Cartilage-Hair Hypoplasia |
|
Anal stenosis, Aganglionic megacolon, Sparse facial hair, Sparse eyelashes, Malabsorption, Sparse... |
OMIM:250250 |
Monosomy 22 |
|
Aplasia of the thymus, Synophrys, Thin vermilion border, High palate, Long philtrum, Sparse hair,... |
ORPHA:96123 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Carious teeth, Nail pits, Premature graying of hair, Nail dystrophy, Spars... |
OMIM:127550 |
Koolen-De Vries Syndrome |
|
Cleft upper lip, Abnormality of hair texture, Pyloric stenosis, Cryptorchidism, Narrow palate, Cl... |
OMIM:610443 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair |
OMIM:610756 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Low anterior hairline, Oligodontia, Coarse hair, Generalized hirsutism |
ORPHA:2095 |
Nicolaides-Baraitser Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Dry hair, Absent eyebrow, Short lingual frenulum, Spar... |
OMIM:601358 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Cryptorchidism, Fine hair, Premature graying of hair, Nail dysplasia, Oral leukoplakia |
OMIM:613990 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Pilomatrixoma, Multinodular goiter, Ovarian neoplasm, Colorectal polyposis, Thyr... |
ORPHA:276399 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Cryptorchidism, Submucous cleft har... |
ORPHA:1340 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Pyloric stenosis, Cryptorchidism, Fine hair, Thin vermilion border, Sparse hair |
OMIM:614438 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Open bite, Deep philtrum, Widow's peak, Wide mouth, Coarse ha... |
ORPHA:1974 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Thick lower lip vermilion, Erupt... |
OMIM:230740 |
Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circulating free T3,... |
ORPHA:525731 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair, Cryptorchidism, Narrow mouth |
OMIM:219150 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Thick hair, Carious teeth, Coarse hair, High palate, Long philtrum, Sparse hair, Smooth philtrum |
ORPHA:357074 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno... |
ORPHA:733 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Absent eyebrow, Absent eyelashes, Cleft palate, Absent toenail, Absent fingernail, C... |
ORPHA:158687 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Brittle hair, Dental crowding |
OMIM:236200 |
Bone Marrow Failure Syndrome 3 |
|
Pancreatic steatosis, Cryptorchidism, Oral ulcer, Downturned corners of mouth, Hypodontia, Sparse... |
OMIM:617052 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Alopecia totalis, Abnormality of th... |
ORPHA:221008 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Fragile nails |
OMIM:242150 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Thyroid agenesis, Cryptorchidism, Submucous cleft hard pa... |
ORPHA:3047 |
Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Hypoplasia of teeth, Fine hair, Everted lower lip vermilion, Widely space... |
OMIM:614099 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormality of the dentition, Breast a... |
ORPHA:2036 |
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, Long philtrum... |
OMIM:312830 |
2P15P16.1 Microdeletion Syndrome |
|
Supernumerary nipple, Sparse eyebrow, Narrow mouth, Fine hair, Everted lower lip vermilion, High ... |
ORPHA:261349 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Decreased response to growth hormone stimulation test, Narrow mouth, Sparse hair, Hypothyroidism,... |
OMIM:614114 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Diabetes mellitus, Abnormality of the dentition, Small nail, Long philtrum, Sparse hair, Nail dys... |
OMIM:614813 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Thyr... |
OMIM:620186 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair |
OMIM:618253 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal dental enamel morphology, Abnormal toenail morphology |
ORPHA:1005 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Cryptorchidism, Sparse hair, Tooth malposition, Hypothyroidism |
OMIM:616541 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Selective tooth a... |
ORPHA:2909 |
Thyroid Hypoplasia |
|
Macroglossia, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Thick vermilion border, Small nail, Sparse hair, High anterior ... |
OMIM:250410 |
Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Fine ha... |
OMIM:242900 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism, Dry hair, Low anterior hairline |
OMIM:618569 |
Lateral Meningocele Syndrome |
|
Dental crowding, Cryptorchidism, Cleft palate, Coarse hair, High palate, Long philtrum, Smooth ph... |
OMIM:130720 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Lip pit, Cryptorchidism, Non-midline cleft lip, Fibrous syngnathia, Cle... |
ORPHA:1300 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Highly arched eyebrow, Synophrys, Oligodontia, Everted lower lip vermilion... |
OMIM:609460 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Cryptorchidism, Fine hair, Long philtrum |
ORPHA:85201 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Macroglossia, Hypothyroidism, Ectopic thyroid |
ORPHA:95712 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Conical tooth, Aplasia of the sweat glands, Hypodontia, Sparse hair |
OMIM:612132 |
Chime Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Fine... |
ORPHA:3474 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Anal stenosis, Hypoparathyroidism, Abnormal fingern... |
ORPHA:235 |
White-Sutton Syndrome |
|
Cleft palate, Downturned corners of mouth, Thin vermilion border, Short philtrum, High palate, Sp... |
OMIM:616364 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair, Long upper lip, Cleft palate |
OMIM:615349 |
Galloway-Mowat Syndrome 9 |
|
Coarse hair, Hiatus hernia |
OMIM:619603 |
46,Xy Sex Reversal 6 |
|
Dysgerminoma, Hirsutism, Sparse axillary hair |
OMIM:613762 |
Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Alopecia totalis, Abnormality of th... |
ORPHA:221016 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Intestinal bleeding, Nail dystrophy, Nail dysplasia, Sparse... |
OMIM:612199 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Sparse pubic hair, Increased circulating gonadotropin level, High palate, Highly arched eyebrow |
OMIM:110100 |
Adams-Oliver Syndrome |
|
Alopecia, Esophageal varix, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypopla... |
ORPHA:974 |
Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Low anterior hairline, Low posterior hairline, Macroglossia, Coarse hair, Thick vermil... |
OMIM:617303 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Thin vermilion border, Fine hair, Long philtrum |
OMIM:614800 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture, Abnormality of the dentition |
ORPHA:88618 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankyloglossia |
OMIM:618021 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Highly arched eyebrow, Cleft lip, Thick lower lip vermilion, Cleft pal... |
OMIM:280000 |
Mucopolysaccharidosis, Type Iiid |
|
Thick eyebrow, Synophrys, Thick lower lip vermilion, Wide mouth, Macroglossia, Coarse hair, Thick... |
OMIM:252940 |
Adrenomyeloneuropathy |
|
Frontal balding, Intra-oral hyperpigmentation, Primary adrenal insufficiency, Fine hair, Adrenoco... |
ORPHA:139399 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypogonadism, Esophagitis, Abnormality of hair texture |
ORPHA:79351 |
Cerebellar-Facial-Dental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Dental malocclusion, Alveolar ridge overgrowth, Fine hair, Taurod... |
ORPHA:444072 |
Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Wide mouth, Thin vermilion bo... |
ORPHA:920 |
Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Gastritis, Hypopigmentation of hair, Colitis, Hypoplasia of the th... |
ORPHA:84064 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Intestinal malrotation, Diastema, Carious teeth, Sparse eyebrow, High p... |
OMIM:244450 |
Multiple Sulfatase Deficiency |
|
Coarse hair, Thick eyebrow, Smooth philtrum |
ORPHA:585 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Narrow philtrum, Elevated circulating thyroid-stimulating hormone conc... |
OMIM:601812 |
Carney Complex |
|
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O... |
ORPHA:1359 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Sparse hair, Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema |
OMIM:615934 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Cleft hard palate, Cleft lip, Sparse eyebrow, Aplasia of the ovary, Clef... |
ORPHA:69085 |
Agel Amyloidosis |
|
Sparse hair, Tongue atrophy, Xerostomia, Nail dystrophy |
ORPHA:85448 |
Kid Syndrome |
|
Sparse eyelashes, Lip fissure, Angular cheilitis, Abnormality of the dentition, Sparse eyebrow, S... |
ORPHA:477 |
Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Short nail, Thin nail, High, narrow palate, Fine hair, High palate, Widely spa... |
OMIM:218330 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... |
OMIM:604292 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Dental malocclusion, Fine hair, Taurodontia, Macrodontia of perma... |
OMIM:616202 |
Distal Deletion 12Q |
|
Median cleft lip, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the yo... |
ORPHA:96149 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Wide mouth, Cryptorchidism, High palate, Sparse hair |
OMIM:300661 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of hair, Sparse ha... |
ORPHA:363618 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Fine hair, Tooth agenesis, Microdontia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2637 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Carious teeth, High, narr... |
ORPHA:33364 |
Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Intestinal malrotation, Abnormality of the dentition, Open bite, ... |
ORPHA:955 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef... |
OMIM:615849 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Adrenal hypoplasia, Cleft upper lip, Stillbirth, Small nail, Thyroid hypoplasia |
OMIM:308050 |
Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Pyl... |
OMIM:602535 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Anterior pituitary hypoplasia, Abnormality of the dentition, Cryptorchidism, Cleft palate, Anteri... |
OMIM:151050 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Highly arched eyebrow, Cryptorchidism, Deep philtrum, Low posterior hairline, Fine hair, Thick ve... |
OMIM:613563 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Agenesis of permanent teeth, Fine hair, Patchy alopecia,... |
OMIM:181270 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Downturned corners of mouth, Coarse hair, Nail dysplasia, Abnormality of the dentition |
OMIM:612394 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Abnormal dental e... |
ORPHA:534 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Long philtrum, Sparse hair |
OMIM:277590 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Thin upper lip vermilion, High, narrow palate, Synophrys, Long philtrum, Sparse hair, Toenail dys... |
OMIM:300966 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Aganglionic megacolon, Fine hair, Malabsorption |
ORPHA:935 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Narrow mouth, Cryptorchidism, High palate, Small, conical teeth, Spars... |
ORPHA:2962 |
Diamond-Blackfan Anemia 21 |
|
Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Narrow mouth |
OMIM:620072 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Alopecia, Abnormal circ... |
ORPHA:79474 |
Cowden Syndrome |
|
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Furr... |
ORPHA:201 |
Noonan Syndrome |
|
Abnormal hair quantity, Hypogonadotropic hypogonadism, Cryptorchidism, Thick lower lip vermilion,... |
ORPHA:648 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow |
OMIM:302960 |
Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Brittle hair, Macrodontia, Cleft palate, High palate, Short philtrum, N... |
OMIM:309500 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Synophrys, Dental malocclusion, Hypoplastic sweat glands, Localized ... |
ORPHA:73223 |
Mucopolysaccharidosis, Type Vii |
|
Thick eyebrow, Gingival overgrowth, Macroglossia, Coarse hair, Widely spaced teeth, Hirsutism |
OMIM:253220 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Precocious puberty, Cryptorchidism, ... |
OMIM:616682 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Abnormal tongu... |
ORPHA:653 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Adenocarcinoma of the colon |
OMIM:620189 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Cryptorchidism, Submucous cleft hard palate, Loss of eyelashes, Cleft palate, Abnormal ... |
ORPHA:2636 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Thin nail, Delayed eruption of primary teeth, Widely spaced teeth, Sparse hair |
OMIM:617799 |
Fontaine Progeroid Syndrome |
|
High, narrow palate, Synophrys, Low anterior hairline, Anteriorly placed anus, Oligodontia, Coars... |
OMIM:612289 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Wide mouth, High palate, Sparse hair |
OMIM:619934 |
Cranioectodermal Dysplasia 2 |
|
Sparse eyelashes, Sparse eyebrow, Cleft palate, Broad philtrum, Fused teeth, High palate, Widely ... |
OMIM:613610 |
46,Xy Partial Gonadal Dysgenesis |
|
Decreased serum testosterone concentration, Streak ovary, Hypergonadotropic hypogonadism, Sparse ... |
ORPHA:251510 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Dental crowding, Rectal prolapse, Pseudohypoparathyroidism, Thin vermilion border, High palate, L... |
OMIM:617157 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Tented upper lip vermilion, Congenital hypothyroidism, Delayed eruption of permanent teeth, Short... |
ORPHA:521445 |
Myhre Syndrome |
|
Thin upper lip vermilion, Cleft lip, Cryptorchidism, Cleft palate, Fine hair, Short philtrum, Nar... |
OMIM:139210 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Cleft palate, Orofacial cleft, Narrow... |
ORPHA:2166 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Frontal hirsutism, Cleft palate, Coarse hair, Stillbirth, Tooth malpos... |
OMIM:309350 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Cryptorchidism, Thick vermilion border, Sparse hair, Microdontia, Hypothyroidism, Smooth philtrum |
OMIM:620005 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Trichorrhexis nodosa |
OMIM:207900 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Conical tooth, Short philtrum, High palate, Microdontia, Cryptorchidism, Intussusceptio... |
OMIM:135900 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Sparse scalp hair, Anterior pituitary hypoplasia, Highly arched eyebrow... |
OMIM:619841 |
Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Anteriorly placed anus, Oligodontia, Absent fingernail, Sparse hair, C... |
OMIM:305600 |
Cockayne Syndrome A |
|
Dry hair, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Dental malocclusion, ... |
OMIM:216400 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sparse eyebrow, Intra-oral hyperpigmentation, High palate, Hypodontia, Short philtrum, Narrow mou... |
OMIM:619127 |
Roberts Syndrome |
|
Cleft upper lip, Cryptorchidism, Cleft palate, High palate, Sparse hair |
ORPHA:3103 |
Menke-Hennekam Syndrome 1 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Cryptorchidism, Deep philtrum, Cleft palat... |
OMIM:618332 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Sparse eyebrow, Gingival overgrowth, Wide mouth, Macroglossia, Long philtrum, Spars... |
OMIM:252500 |
Neurocardiofaciodigital Syndrome |
|
Sparse hair, Thin vermilion border, High palate, Sparse eyebrow |
OMIM:619869 |
Menkes Disease |
|
Hypopigmentation of hair, Malabsorption, Sparse hair, Woolly hair, Abnormal palate morphology |
ORPHA:565 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Carious teeth, Thin vermilion border, Smooth tongue, Sparse hair |
OMIM:601559 |
Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Rectal prolapse, Thick lower lip vermilion, Dental malocclusion, Narrow pa... |
OMIM:303600 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Goiter |
ORPHA:254892 |
Cockayne Syndrome B |
|
Dry hair, Delayed eruption of primary teeth, Carious teeth, Abnormal hair morphology, Cryptorchid... |
OMIM:133540 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Absent eyelashes, Anteriorly placed anus, Short upper lip, Wide mouth, Hypoplasti... |
OMIM:200110 |
Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Malabsorption, Sparse eyebrow, Gingival overgrowth, Sparse hair, Abnormal ... |
ORPHA:175 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy, Narr... |
OMIM:614748 |
Restrictive Dermopathy |
|
Natal tooth, Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Submuco... |
ORPHA:1662 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Downturned corners of mouth, Sh... |
ORPHA:3455 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Short nail, Carious teeth, Cryptorchidism, Fragile nails, High palate,... |
OMIM:278250 |
Mucopolysaccharidosis Type 3 |
|
Thick hair, Malabsorption, Abnormality of the dentition, Synophrys, Macroglossia, Coarse hair, Th... |
ORPHA:581 |
Occipital Horn Syndrome |
|
Hiatus hernia, Coarse hair, High palate, Long philtrum, Pili torti |
OMIM:304150 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Delayed eruption of primary teeth |
OMIM:300952 |
Ogden Syndrome |
|
Thin upper lip vermilion, Everted upper lip vermilion, Maternal diabetes, Abnormality of the dent... |
OMIM:300855 |
Noonan Syndrome 1 |
|
High, narrow palate, Cryptorchidism, Dental malocclusion, Cleft palate, Low posterior hairline, H... |
OMIM:163950 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Aganglionic megacolon, Abnormal dental enamel morpholo... |
ORPHA:2273 |
Branchiooculofacial Syndrome |
|
Supernumerary nipple, Abnormality of the dentition, Malrotation of colon, Cleft upper lip, Lower ... |
OMIM:113620 |
Neuroocular Syndrome |
|
Brittle hair, Highly arched eyebrow, Short uvula, Submucous cleft hard palate, Synophrys, Downtur... |
OMIM:619539 |
Primrose Syndrome |
|
Sparse scalp hair, Diabetes mellitus, Hypergonadotropic hypogonadism, Absent facial hair, Bilater... |
OMIM:259050 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Premature loss of primary teeth, Abnormality of hair texture |
ORPHA:667 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Biliary hyperplasia, Pyloric stenosis, Cryptorchidism, Cleft palate, Coarse hair, Narrow mouth, C... |
ORPHA:83617 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Cryptorchidism, High palate, Small, conical teeth, Spar... |
ORPHA:2834 |
Lysinuric Protein Intolerance |
|
Sparse hair, Fine hair |
OMIM:222700 |
Cockayne Syndrome |
|
Dry hair, Diabetes mellitus, Abnormal dental morphology, Delayed eruption of primary teeth, Cario... |
ORPHA:191 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Thin upper lip vermilion, Branchial fistula, Unilateral cryptorchi... |
OMIM:613406 |
Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Smooth tongue, Ectopic thyroid, Abnormality of the dentition |
ORPHA:3206 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Nodular goiter, ... |
ORPHA:79078 |
Mucolipidosis Type Ii |
|
Dry hair, White hair, Gingival overgrowth, Fine hair |
ORPHA:576 |
Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Leprosy |
|
Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Abnormality of the adrenal glands, ... |
ORPHA:548 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Bifid uvula, Accessory oral frenulum, Precocious pub... |
ORPHA:672 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse hair, Sparse scalp hair, Type I diabetes mellitus, Narrow mouth |
OMIM:606721 |
Occipital Horn Syndrome |
|
Thick hair, Hiatus hernia, High, narrow palate, Coarse hair, Esophagitis, Long philtrum |
ORPHA:198 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Stillbirth, Short... |
OMIM:210710 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Thin upper lip vermilion, Sparse scalp hair, Carious teeth, Bilateral cryptorc... |
OMIM:150230 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, High, nar... |
ORPHA:286 |
Cockayne Syndrome Type 3 |
|
Carious teeth, Premature graying of hair, Enamel hypoplasia, Dry hair |
ORPHA:90324 |
Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Anteriorly placed anus, Sparse hair, Bifid uvula, Alopecia, Sparse ey... |
OMIM:601803 |
Athyreosis |
|
Thyroid agenesis, Macroglossia, Hypothyroidism |
ORPHA:95713 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Neonatal death, Brittle hair |
OMIM:124000 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Biliary hyperplasia, Abnormal circulating thyroid hormone concentrat... |
OMIM:619991 |
Roberts-Sc Phocomelia Syndrome |
|
Cleft upper lip, Cryptorchidism, Cleft palate, Stillbirth, High palate, Sparse hair |
OMIM:268300 |
Alström Syndrome |
|
Abnormality of dental color, Decreased response to growth hormone stimulation test, Elevated circ... |
ORPHA:64 |