Uncombable Hair Syndrome 3 |
|
Curly hair, Pili canaliculi, Uncombable hair |
OMIM:617252 |
Pseudopili Annulati |
|
Abnormality of the scalp hair, Abnormality of hair texture |
OMIM:613241 |
Ringed Hair Disease |
|
Fine hair, Abnormal hair pattern |
ORPHA:169 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Tented Eyebrows |
|
Abnormal hair morphology |
OMIM:611426 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair |
OMIM:616760 |
Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
Hypotrichosis 13 |
|
Sparse and thin eyebrow, Sparse hair, Woolly hair |
OMIM:615896 |
Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair |
OMIM:617251 |
Witkop Syndrome |
|
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits |
OMIM:189500 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Hypotrichosis 7 |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair |
OMIM:604379 |
Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyelashes, Abnormality of hair te... |
ORPHA:2891 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... |
ORPHA:3361 |
Angioma Serpiginosum, X-Linked |
|
Fine hair, Nail dystrophy, Sparse hair |
OMIM:300652 |
Pili Torti |
|
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... |
ORPHA:2889 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Cardiofaciocutaneous Syndrome 2 |
|
Fine hair, Curly hair, Sparse hair, Absent eyebrow |
OMIM:615278 |
Woolly Hair, Autosomal Dominant |
|
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair |
OMIM:194300 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
Monilethrix |
|
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair |
OMIM:158000 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Alopecia, Woolly scalp hair, Woolly hair |
OMIM:601217 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Brittle hair, Curly hair, Pili torti, Sparse and thin eyebrow, Sparse hair |
OMIM:602400 |
Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair |
OMIM:234030 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... |
OMIM:616099 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
Crandall Syndrome |
|
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:202 |
Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... |
ORPHA:573 |
Hypotrichosis 12 |
|
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... |
OMIM:615885 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
Copper Deficiency, Familial Benign |
|
Early balding, Curly hair |
OMIM:121270 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fine hair, Fragile nails |
ORPHA:500166 |
Trichodental Dysplasia |
|
Fine hair, Brittle hair, Sparse hair, Slow-growing hair |
OMIM:601453 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... |
ORPHA:248 |
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair |
OMIM:164680 |
Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
Pili Torti, Early-Onset |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:261900 |
Hypotrichosis 6 |
|
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair |
OMIM:607903 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:211390 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Dwarfism, Familial, With Muscle Spasms |
|
Fine hair, Sparse scalp hair, Brittle scalp hair |
OMIM:600771 |
Choroidal Atrophy-Alopecia Syndrome |
|
Fine hair, Abnormality of retinal pigmentation, Ungual fibroma, Abnormal toenail morphology, Spar... |
ORPHA:1433 |
Leopard Syndrome 2 |
|
Curly hair, Multiple lentigines, Cafe-au-lait spot |
OMIM:611554 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism |
OMIM:606952 |
Onychotrichodysplasia And Neutropenia |
|
Curly eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Curly hair, Hypoplastic fingernail, Con... |
OMIM:258360 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Fine hair, Thin toenail, Fragile nails, Abnormality of the nail, Hypoplastic fingernail, Hypoplas... |
ORPHA:2228 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Sparse hair |
ORPHA:1174 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Fine hair, Freckling, Brittle hair, Melanocytic nevus, Pili torti, Sparse scalp hair |
ORPHA:1573 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Coarse hair, Synophrys |
OMIM:616351 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Onycholysis, Abnormality of hair texture |
OMIM:270300 |
Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
Trichothiodystrophy 2, Photosensitive |
|
Tiger tail banding, Brittle hair, Coarse hair |
OMIM:616390 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... |
OMIM:613573 |
Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
Bazex-Dupré-Christol Syndrome |
|
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe... |
ORPHA:113 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Brittle hair, Alopecia, Sparse eyebrow, Hyperpigmentation of the skin, Nail dysplasia, Leukonychi... |
OMIM:104100 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Sparse and thin eyebrow, Sparse hair |
OMIM:129490 |
Pilodental Dysplasia With Refractive Errors |
|
Brittle hair, Reticular hyperpigmentation, Brittle scalp hair, Abnormality of the nail, Sparse sc... |
OMIM:262020 |
Noonan Syndrome 6 |
|
Curly hair, Multiple lentigines, Low posterior hairline, Sparse hair, Long eyebrows, Cafe-au-lait... |
OMIM:613224 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Melanoc... |
ORPHA:1882 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair |
OMIM:615279 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
Noonan Syndrome 9 |
|
Curly hair, Sparse eyebrow |
OMIM:616559 |
Leopard Syndrome 3 |
|
Low posterior hairline, Curly hair, Multiple lentigines, Few cafe-au-lait spots |
OMIM:613707 |
Hawkinsinuria |
|
Fine hair, Sparse hair |
ORPHA:2118 |
Noonan Syndrome 5 |
|
Fine hair, Small nail, Sparse eyebrow, Curly hair, Multiple lentigines, Cafe-au-lait spot |
OMIM:611553 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Multiple rows of eyelashes, Curly eyelashes, Curly hair, Nail dysplasia, Thick eyebrow, Low poste... |
ORPHA:163654 |
Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... |
OMIM:129500 |
Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow |
OMIM:607655 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair |
OMIM:617360 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:607624 |
Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Sparse hair, Uncombable hair |
ORPHA:1264 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Abnormality of hair texture, Nail dysp... |
OMIM:225060 |
Amaurosis-Hypertrichosis Syndrome |
|
Coarse hair, Thick eyebrow, Abnormal eyelash morphology, Synophrys |
ORPHA:1021 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Pili Torti-Onychodysplasia Syndrome |
|
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... |
ORPHA:2890 |
Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:616395 |
Noonan Syndrome 8 |
|
Curly hair, Hyperpigmentation of the skin |
OMIM:615355 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Blue irides, White eyelashes, White forelock, Heterochromia iridis, W... |
OMIM:613265 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Sparse hair, Pili canaliculi |
OMIM:614602 |
Bazex Syndrome |
|
Hyperpigmentation of the skin, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Tricho... |
OMIM:301845 |
Smith-Kingsmore Syndrome |
|
Curly hair, Cafe-au-lait spot |
OMIM:616638 |
Pachyonychia Congenita 2 |
|
Dry hair, Subungual hyperkeratosis, Nail dystrophy, Sparse and thin eyebrow, Nail dysplasia, Spar... |
OMIM:167210 |
Naxos Disease |
|
Onycholysis, Nail dystrophy, Curly hair, Woolly hair, Sparse and thin eyebrow, Sparse body hair |
OMIM:601214 |
Cataract, Aberrant Oral Frenula, And Growth Retardation |
|
Curly hair |
OMIM:115645 |
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Coarse hair |
OMIM:248010 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Hypopigmentation of the skin, Abnormality of hair texture |
OMIM:601957 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypopigmented skin patches, Curly hair, Cafe-au-lait spot |
ORPHA:457485 |
Hypotrichosis Simplex Of The Scalp |
|
Fine hair, Sparse scalp hair, Alopecia of scalp, Slow-growing scalp hair |
ORPHA:90368 |
Noonan Syndrome 7 |
|
Low posterior hairline, Curly hair |
OMIM:613706 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... |
ORPHA:895 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism |
ORPHA:2786 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... |
ORPHA:2885 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Waardenburg Syndrome, Type 2A |
|
Partial albinism, Albinism, White eyelashes, White forelock, Heterochromia iridis, White eyebrow,... |
OMIM:193510 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Coarse hair, Sparse hair |
ORPHA:1883 |
Elejalde Disease |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:256710 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Woolly hair |
OMIM:605676 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology |
ORPHA:2221 |
Noonan Syndrome 4 |
|
High anterior hairline, Curly hair, Sparse eyebrow, Blue irides |
OMIM:610733 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Sparse eyelashes, Small nail, Brittle hair, Trichorrhexis nodosa, Abnormality of hair texture, Na... |
OMIM:234050 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Pili canaliculi, Uncombable hair |
OMIM:191482 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
Growth Hormone Insensitivity Syndrome |
|
Fine hair, Abnormality of the nail |
ORPHA:181393 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Brittle hair, Alopecia, Hyperpigmentation of the skin |
ORPHA:50812 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
Trichohepatoneurodevelopmental Syndrome |
|
Hypoplastic nipples, Hypertrichosis, Coarse hair, Curly hair, Woolly hair, Synophrys |
OMIM:618268 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Fine hair, Sparse scalp hair |
ORPHA:2324 |
Acrogeria |
|
Fine hair, Irregular hyperpigmentation |
ORPHA:2500 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Slow-growing hair, Brittle hair, Tiger tail banding |
OMIM:616943 |
Cerebellofaciodental Syndrome |
|
Fine hair, Sparse and thin eyebrow, Sparse hair |
OMIM:616202 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Nail dystrophy, Fragile nails, Leukonychia, Woolly hair |
OMIM:615821 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Spinocerebellar Ataxia With Dysmorphism |
|
Coarse hair |
OMIM:271270 |
Trichohepatoenteric Syndrome 1 |
|
Fine hair, Brittle hair, Trichorrhexis nodosa, Curly hair, Woolly hair, Sparse hair |
OMIM:222470 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
Olmsted Syndrome 2 |
|
Alopecia universalis, Sparse hair, Woolly hair |
OMIM:619208 |
Progeroid Syndrome, Petty Type |
|
Long eyelashes in irregular rows, Abnormal hair morphology, Brittle hair, Thick eyebrow, Generali... |
ORPHA:2963 |
Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Alopecia, Sparse hair |
ORPHA:1839 |
Rodrigues Blindness |
|
Fine hair, Sparse hair |
OMIM:268320 |
Noonan Syndrome 10 |
|
Curly hair, Hyperpigmentation of the skin, Sparse eyebrow, Cafe-au-lait spot |
OMIM:616564 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Loose anagen hair, Hyperpigmentation of the skin, Long eyelashes, Curly hair, Multiple lentigines... |
OMIM:607721 |
Chand Syndrome |
|
Curly hair, Nail dysplasia |
ORPHA:1401 |
Weaver Syndrome |
|
Fine hair, Thin nail, Deep-set nails, Hypoplastic toenails, Abnormal fingernail morphology |
ORPHA:3447 |
Noonan Syndrome 2 |
|
Hyperpigmentation of the skin, Sparse eyebrow, Curly hair, Low posterior hairline, Cafe-au-lait spot |
OMIM:605275 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperpigmentation of the skin, Absent eyebrow, Absent eyelashes, Curly hair, Multiple lentigines,... |
OMIM:115150 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Fine hair, Sparse eyelashes, Hypoplastic nipples, Distichiasis, Absent pubic hair, Sparse hair, A... |
OMIM:211370 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Fine hair, Abnormal fingernail morphology, Onycholysis, Hypoplastic toenails |
ORPHA:1028 |
Oculodentodigital Dysplasia |
|
Fine hair, Brittle hair, Curly hair, Abnormality of the nail, Slow-growing hair, Abnormal fingern... |
ORPHA:2710 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Fine hair, Long eyelashes, High anterior hairline |
ORPHA:231137 |
Odontoonychodermal Dysplasia |
|
Fine hair, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Sparse scalp h... |
OMIM:257980 |
Mucopolysaccharidosis, Type Iiia |
|
Coarse hair, Hirsutism, Synophrys |
OMIM:252900 |
Piebald Trait |
|
Partial albinism, Piebaldism, White forelock, Heterochromia iridis, Absent pigmentation of the ve... |
OMIM:172800 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Highly arched eyebrow, Freckling, Sparse lateral eyebrow, Coarse hair, Curly hair, Slow-growing h... |
OMIM:617506 |
Giant Axonal Neuropathy |
|
Pili canaliculi, Woolly hair |
ORPHA:643 |
Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Woolly hair, Ridged fingernail, Low posterior hairline, Widow's peak |
ORPHA:1520 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Slow-growing hair, Brittle hair, Sparse hair, Tiger tail banding |
OMIM:300953 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
Adult Syndrome |
|
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Freckling, Alopecia, Sparse scalp hair, Mel... |
ORPHA:978 |
Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... |
ORPHA:79435 |
Piebaldism |
|
Hypopigmented skin patches, Piebaldism, White eyelashes, White forelock, Heterochromia iridis, Hy... |
ORPHA:2884 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Nail dystrophy, Brittle hair, Alopecia, Coarse hair |
ORPHA:75389 |
Netherton Syndrome |
|
Sparse and thin eyebrow, Brittle hair, Brittle scalp hair, Sparse scalp hair |
OMIM:256500 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Sparse or absent eyelashes, Multiple cafe-au-lai... |
ORPHA:3353 |
Netherton Syndrome |
|
Fine hair, Sparse eyelashes, Abnormal hair morphology, Sparse scalp hair, Trichorrhexis nodosa, I... |
ORPHA:634 |
Trichothiodystrophy 1, Photosensitive |
|
Fine hair, Tiger tail banding, Small nail, Freckling, Brittle hair, Nail dystrophy, Trichorrhexis... |
OMIM:601675 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology, Uncombable hair |
ORPHA:3082 |
Mucopolysaccharidosis, Type Iiib |
|
Coarse hair, Hirsutism, Synophrys |
OMIM:252920 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Fine hair, Thick eyebrow |
OMIM:614800 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
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Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... |
OMIM:601375 |
Distal Trisomy 6P |
|
Fine hair, Abnormal eyelash morphology, Abnormal hair quantity |
ORPHA:1745 |
Brachycephaly, Trichomegaly, And Developmental Delay |
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Highly arched eyebrow, Brittle hair, Long eyelashes, Thick eyebrow, Synophrys |
OMIM:617412 |
Hall-Riggs Syndrome |
|
Slow-growing hair, Coarse hair, Thick hair |
ORPHA:2107 |
2Q32Q33 Microdeletion Syndrome |
|
Fine hair, Sparse hair |
ORPHA:251019 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
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Nail dystrophy, Brittle hair, Dry hair |
ORPHA:93947 |
Revesz Syndrome |
|
Fine hair, Nail dystrophy, Fine, reticulate skin pigmentation, Ridged fingernail, Sparse hair, Na... |
OMIM:268130 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Coarse hair, Sparse hair |
OMIM:118650 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Brittle hair, Alopecia, Abnormality of hair texture, Sparse hair, Mottled pigmentation |
OMIM:608612 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Coarse hair, Abnormality of hair texture |
OMIM:219200 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, Long eyelashes, Curly hair, Abnormal toenail morphology, Thick hair, Thick... |
ORPHA:444077 |
Mucopolysaccharidosis, Type Iiic |
|
Coarse hair, Hirsutism, Synophrys |
OMIM:252930 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Fine hair, Sparse hair |
OMIM:614438 |
Fetal Hydantoin Syndrome |
|
Low posterior hairline, Coarse hair, Hypoplastic fingernail |
ORPHA:1912 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Fine hair, Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation |
ORPHA:1806 |
Mucopolysaccharidosis, Type Iiid |
|
Thick eyebrow, Coarse hair, Hirsutism, Synophrys |
OMIM:252940 |
Oculocutaneous Albinism |
|
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... |
ORPHA:55 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Freckling, Hypopigmentation of the skin, Albinism, Melanocyt... |
ORPHA:79434 |
Tonne-Kalscheuer Syndrome |
|
Fine hair, Small nail |
OMIM:300978 |
Rapp-Hodgkin Syndrome |
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Fine hair, Small nail, Decreased number of sweat glands, Progressive alopecia, Onychogryposis, Sp... |
OMIM:129400 |
Carney Complex, Type 1 |
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Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair |
OMIM:160980 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
Cartilage-Hair Hypoplasia |
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Fine hair, Sparse eyelashes, Sparse and thin eyebrow, Sparse hair, Sparse facial hair, Fair hair |
OMIM:250250 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Fine hair, Sparse hair |
OMIM:616817 |
19Q13.11 Microdeletion Syndrome |
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Fine hair, Sparse lateral eyebrow, Nail dysplasia, Sparse or absent eyelashes, Sparse hair, Super... |
ORPHA:217346 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
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Fine hair, Alopecia, Nail dysplasia, Reticulated skin pigmentation, Premature graying of hair |
OMIM:613990 |
Oculocutaneous Albinism Type 2 |
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Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... |
ORPHA:79432 |
Gorlin-Chaudhry-Moss Syndrome |
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Coarse hair, Generalized hirsutism, Low anterior hairline |
ORPHA:2095 |
Zttk Syndrome |
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Broad eyebrow, Curly hair, Sparse eyebrow |
OMIM:617140 |
Costello Syndrome |
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Thin nail, Hyperpigmentation of the skin, Deep-set nails, Curly hair, Fragile nails, Concave nail... |
OMIM:218040 |
Incontinentia Pigmenti |
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Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail, Abnormality ... |
OMIM:308300 |
Intellectual Disability, Buenos-Aires Type |
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Fine hair, Abnormal fingernail morphology, Hyperconvex thumb nails |
ORPHA:3079 |
Costello Syndrome |
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Hypoplastic toenails, Abnormal hair morphology, Generalized hyperpigmentation, Deep-set nails, Wo... |
ORPHA:3071 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Coarse hair, Sparse eyebrow, Abnormal hair pattern, Scarring alopecia of scalp,... |
ORPHA:35173 |
Trichorhinophalangeal Syndrome, Type I |
|
Fine hair, Thin eyebrow, Sparse lateral eyebrow, Thin nail, Slow-growing hair, Leukonychia, Conca... |
OMIM:190350 |
Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
Mucoepithelial Dysplasia, Hereditary |
|
Chronic monilial nail infection, Nail dystrophy, Alopecia, Coarse hair, Nail dysplasia |
OMIM:158310 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... |
ORPHA:79431 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Brittle hair, Sparse eyebrow |
OMIM:618810 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Fine hair, White hair |
ORPHA:935 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Fine hair, Sparse hair, Low anterior hairline, Synophrys |
ORPHA:391408 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... |
OMIM:203100 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Fine hair, Alopecia |
ORPHA:228390 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Fine hair, Synophrys |
OMIM:619428 |
Cerebrofaciothoracic Dysplasia |
|
Coarse hair, Abnormal hair pattern, Thick eyebrow, Low posterior hairline, Synophrys |
ORPHA:1394 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Dystrophic fingernails, Generalized hyperpigmentation, Dystrophic toenail, Coar... |
ORPHA:1071 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Coarse hair, Thick eyebrow |
ORPHA:585 |
Schimke Immunoosseous Dysplasia |
|
Fine hair, Coarse hair, Hypermelanotic macule |
OMIM:242900 |
Craniolenticulosutural Dysplasia |
|
Abnormality of skin pigmentation, Brittle hair, Hyperpigmentation of the skin, Coarse hair, Spars... |
ORPHA:50814 |
Ogden Syndrome |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:276432 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Nail dysplasia |
OMIM:614091 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Abnormal hair pattern |
ORPHA:1786 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Mongolian blue spot, Dry hair, Low anterior hairline |
OMIM:618569 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Hypopigmentation of the skin |
OMIM:236200 |
Argininosuccinic Aciduria |
|
Brittle hair, Dry hair, Trichorrhexis nodosa |
OMIM:207900 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Nail dysplasia, Coarse hair |
OMIM:612394 |
Cranioectodermal Dysplasia 3 |
|
Fine hair, Broad nail, Short nail, Sparse hair |
OMIM:614099 |
Popov-Chang syndrome |
|
Coarse hair |
OMIM:618428 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hirsutism, Thoracic hypertrichosis, Long eyelashes, Horizontal eyebrow, Curly hair, Thick eyebrow... |
OMIM:619503 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Hypertrichosis, Hypoplastic nipples, Depigmentation/hyperpigmentation of skin |
ORPHA:480880 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hirsutism, Low anterior hairline, Coarse hair, Long eyelashes, Low posterior hairline, Synophrys |
OMIM:617303 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Aplasia/Hypoplastia of the eccrine sweat glands, Sparse eyelashes, Hypoplastic nipples, Brittle h... |
OMIM:305100 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Broad lateral eyebrow, Curly hair, Sparse eyebrow |
ORPHA:500150 |
Scalp-Ear-Nipple Syndrome |
|
Fine hair, Abnormal hair morphology, Nail dysplasia, Abnormality of the nail, Breast aplasia, Spa... |
OMIM:181270 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple |
ORPHA:1812 |
Cardiofaciocutaneous Syndrome |
|
Fine hair, Dystrophic fingernails, Generalized hyperpigmentation, Brittle hair, Multiple lentigin... |
ORPHA:1340 |
Hallermann-Streiff Syndrome |
|
Sparse eyelashes, Alopecia, Abnormality of hair texture, Sparse and thin eyebrow, Sparse hair, Sp... |
ORPHA:2108 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair |
ORPHA:1974 |
Trisomy 20P |
|
Highly arched eyebrow, Low anterior hairline, Coarse hair, Thick hair, Thick eyebrow, Low posteri... |
ORPHA:261318 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture |
ORPHA:79351 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fine hair, Sparse eyelashes |
OMIM:257850 |
Syndromic Diarrhea |
|
Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Hypopigmentation of hair, Gener... |
ORPHA:84064 |
Genitopatellar Syndrome |
|
Fine hair, Sparse scalp hair |
ORPHA:85201 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Fine hair, Brittle hair, Sparse hair |
OMIM:618891 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow, Hypopigmented skin patches, Multiple cafe-au-lait s... |
ORPHA:2637 |
Sener Syndrome |
|
Coarse hair |
OMIM:606156 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Thick hair, Coarse hair |
ORPHA:357074 |
Oculodentodigital Dysplasia |
|
Fine hair, Dry hair, Fragile nails, Slow-growing hair, Sparse hair |
OMIM:164200 |
Mucopolysaccharidosis, Type Vii |
|
Thick eyebrow, Coarse hair, Hirsutism |
OMIM:253220 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair |
OMIM:124000 |
Adrenomyeloneuropathy |
|
Fine hair, Lip hyperpigmentation, Frontal balding, Abnormality of skin pigmentation |
ORPHA:139399 |
Lateral Meningocele Syndrome |
|
Coarse hair |
OMIM:130720 |
Koolen-De Vries Syndrome |
|
Iris hypopigmentation, Fair hair, Abnormality of hair texture |
OMIM:610443 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Sparse hair, Fine hair |
OMIM:277590 |
Trichothiodystrophy |
|
Tiger tail banding, Alopecia of scalp, Dystrophic fingernails, Split nail, Ridged nail, Aplasia/H... |
ORPHA:33364 |
Eec Syndrome |
|
Fine hair, Nail dystrophy, Coarse hair, Thick eyebrow, Slow-growing hair, Sparse and thin eyebrow... |
ORPHA:1896 |
Ablepharon Macrostomia Syndrome |
|
Fine hair, Sparse hair, Abnormality of skin pigmentation, Absent eyebrow, Abnormal hair pattern, ... |
ORPHA:920 |
Woodhouse-Sakati Syndrome |
|
Fine hair, Sparse hair, Alopecia |
OMIM:241080 |
2P15P16.1 Microdeletion Syndrome |
|
Fine hair, Sparse and thin eyebrow, Long eyelashes, Supernumerary nipple |
ORPHA:261349 |
Ogden Syndrome |
|
Fine hair, Sparse and thin eyebrow, Long eyelashes |
OMIM:300855 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Fine hair, Sparse hair, Cafe-au-lait spot |
OMIM:613563 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Depigmentation/hyperpigmentation of skin, Abnormality of hair texture, Thick eyebrow, Abnormality... |
ORPHA:73223 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Fine hair, Sparse eyelashes, Onycholysis, Nail dystrophy, Sparse scalp hair, Sparse and thin eyebrow |
OMIM:614748 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Fine hair, Sparse hair |
ORPHA:251028 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Sparse hair, Forehead hyperpigmentation, Coarse hair |
OMIM:607812 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Fine hair, Sparse hair, Hypoplastic nipples |
OMIM:280000 |
Cerebellar-Facial-Dental Syndrome |
|
Fine hair, Sparse hair, Sparse eyebrow |
ORPHA:444072 |
Hallermann-Streiff Syndrome |
|
Fine hair, Sparse eyelashes, Sparse scalp hair, Sparse and thin eyebrow, Sparse hair |
OMIM:234100 |
Noonan Syndrome |
|
Low posterior hairline, Coarse hair, Abnormal hair quantity, Melanocytic nevus |
ORPHA:648 |
Opitz-Kaveggia Syndrome |
|
Fine hair, Sparse hair, Frontal upsweep of hair |
OMIM:305450 |
Dubowitz Syndrome |
|
Fine hair, Low anterior hairline, Abnormality of skin pigmentation, Sparse lateral eyebrow, Spars... |
ORPHA:235 |
Menkes Disease |
|
Hypopigmentation of hair, Sparse hair, Woolly hair |
ORPHA:565 |
Mucolipidosis Type Ii |
|
Fine hair, White hair, Dry hair |
ORPHA:576 |
Lysinuric Protein Intolerance |
|
Fine hair, Sparse hair |
OMIM:222700 |
Cranioectodermal Dysplasia 1 |
|
Fine hair, Short nail, Thin nail, Slow-growing hair, Sparse hair |
OMIM:218330 |
Focal Dermal Hypoplasia |
|
Linear hyperpigmentation, Hypoplastic nipples, Absent toenail, Brittle hair, Nail dystrophy, Reti... |
OMIM:305600 |
Mucopolysaccharidosis Type 3 |
|
Hirsutism, Coarse hair, Thick hair, Generalized hirsutism, Pigmentary retinopathy, Synophrys |
ORPHA:581 |
Cockayne Syndrome B |
|
Abnormal hair morphology, Dry hair, Abnormality of skin pigmentation, Pigmentary retinopathy, Spa... |
OMIM:133540 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture |
ORPHA:667 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Sparse hair, Coarse hair, Alopecia |
ORPHA:2750 |
Chime Syndrome |
|
Fine hair, Sparse hair |
ORPHA:3474 |
Cockayne Syndrome A |
|
Dry hair, Abnormality of skin pigmentation, Retinal pigment epithelial mottling, Pigmentary retin... |
OMIM:216400 |
Hajdu-Cheney Syndrome |
|
Low anterior hairline, Coarse hair, Thick eyebrow, Generalized hirsutism, Abnormal fingernail mor... |
ORPHA:955 |
Occipital Horn Syndrome |
|
Coarse hair |
OMIM:304150 |
Melnick-Needles Syndrome |
|
Frontal hirsutism, Coarse hair |
OMIM:309350 |
Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Abnormal hair morphology, Coarse hair, Hyperconvex fingernails, Thick eyebrow |
OMIM:303600 |
Fontaine Progeroid Syndrome |
|
Small nail, Hypertrichosis, Hypoplastic nipples, Low anterior hairline, Low posterior hairline, C... |
OMIM:612289 |
Distal Monosomy 12Q |
|
Fine hair, Small nail |
ORPHA:96149 |
Myhre Syndrome |
|
Fine hair, Sparse hair, Thick eyebrow |
OMIM:139210 |
Cockayne Syndrome Type 3 |
|
Dry hair, Premature graying of hair |
ORPHA:90324 |
Renpenning Syndrome 1 |
|
Sparse lateral eyebrow, Brittle hair, Sparse hair |
OMIM:309500 |
Neuroocular Syndrome |
|
Blue irides, Highly arched eyebrow, Small nail, Stellate iris, Brittle hair, Long eyelashes, Brus... |
OMIM:619539 |
Coffin-Siris Syndrome 1 |
|
Hypertrichosis, Dry hair, Lumbosacral hirsutism, Hypoplastic fifth fingernail, Facial hypertricho... |
OMIM:135900 |
Witteveen-Kolk Syndrome |
|
Fine hair, Medial flaring of the eyebrow, High anterior hairline, Cafe-au-lait spot |
OMIM:613406 |
Occipital Horn Syndrome |
|
Coarse hair, Thick hair |
ORPHA:198 |
Cockayne Syndrome |
|
Fine hair, Abnormality of retinal pigmentation, Dry hair, Pigmentary retinopathy |
ORPHA:191 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coarse hair |
ORPHA:83617 |
Oculocerebrorenal Syndrome Of Lowe |
|
Fine hair, Sparse scalp hair, Generalized hypopigmentation |
ORPHA:534 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormality of skin pigmentation, Alopecia, Melanocytic nevus, Abnormality of hair texture, Aplas... |
ORPHA:286 |
Alström Syndrome |
|
Fine hair, Hirsutism, Frontal balding |
ORPHA:64 |