Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Pruritus, Perifollicular hy... |
ORPHA:505 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... |
ORPHA:2722 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Dissecting Cellulitis Of The Scalp |
|
Abnormal hair morphology, Recurrent skin infections, Edema, Pruritus |
ORPHA:345 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Waardenburg Syndrome, Type 2F |
|
Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White for... |
OMIM:619947 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Pruritus, Hypohidrosis, Palmoplantar keratoderma, Erythroderma, Abnormality ... |
ORPHA:79394 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Hypohidrosis, Palmoplan... |
OMIM:618535 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Follicular hyperkeratosis, Sparse hair,... |
OMIM:607903 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... |
OMIM:617294 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Irre... |
ORPHA:2897 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Polyhydramnios, Pruritus, Follicular hyperkeratosis, Erythroderma, Alopecia of... |
OMIM:608649 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism |
ORPHA:2297 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Nail dystrop... |
OMIM:618625 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Telecanthus, Hypopigmented skin patches, Premature graying of hair, Whi... |
ORPHA:895 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ... |
ORPHA:499 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Allergic rhini... |
ORPHA:90368 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Erythroderm... |
OMIM:242300 |
Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Hypohidrosis, Nail dystrophy, Erythroderma,... |
ORPHA:100976 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... |
ORPHA:69125 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Perifolliculitis, Abnormal fingernail morphology, Maculopap... |
ORPHA:79147 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hypohidros... |
OMIM:602400 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Nail dystrophy |
ORPHA:79503 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... |
OMIM:619208 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Netherton Syndrome |
|
Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti... |
OMIM:256500 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis, Alopecia, Alopecia of scalp |
OMIM:260910 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Lamellar Ichthyosis |
|
Pruritus, Dehydration, Hyperkeratosis, Abnormality of the nail, Erythroderma, Sparse hair, Chroni... |
ORPHA:313 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Fair hair |
OMIM:618808 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma |
OMIM:615024 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Ichthyosis With Confetti |
|
Pruritus, Palmoplantar hyperkeratosis, Hypoplastic nipples, Erythroderma, Hypertrichosis |
OMIM:609165 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Pru... |
ORPHA:79399 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Sparse hair, Widow's peak, Atopic dermatitis, Thick eyebrow |
OMIM:606242 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Hyperhidrosis |
OMIM:613576 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Palmoplantar hyperhidrosis, Erythroderma |
OMIM:270300 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Pruritus, Palmoplanta... |
ORPHA:89838 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Periodontitis, Sparse body hai... |
ORPHA:1008 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia |
ORPHA:2574 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma |
OMIM:133200 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Bazex-Dupre-Christol Syndrome |
|
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Hypohidrosis, Coarse hair, Sparse hair, Trichoep... |
OMIM:301845 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Patchy ... |
ORPHA:346 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
Linear Atrophoderma Of Moulin |
|
Inflammatory abnormality of the skin, Linear hyperpigmentation, Pruritus |
ORPHA:140933 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Ridged fingernail, Hypopigmented skin patches, Palmoplantar keratoderma, Fingernail dys... |
ORPHA:2251 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Eczema, Hypohidrosis, Abnormality of skin pigmentation, Sparse ha... |
ORPHA:1810 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... |
OMIM:613102 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Sézary Syndrome |
|
Alopecia, Edema, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, Irregular hype... |
ORPHA:3162 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse... |
OMIM:604536 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair, Ptosis |
ORPHA:1067 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... |
OMIM:616099 |
Ulerythema Ophryogenesis |
|
Acne, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis, Sparse lateral eyebrow |
ORPHA:3406 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hyperkeratosis, Hypohidrosis, Erythroderma |
OMIM:615023 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis |
OMIM:612281 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Palmoplantar keratoderma, Nail ... |
ORPHA:2890 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Hypohidro... |
OMIM:617337 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Irregular hyperpigmentation of back, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair,... |
ORPHA:1818 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... |
OMIM:129490 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia, Erythroderma |
OMIM:618840 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Progressive hyperpigmentation, Eczema, Allergic rhinitis, Pruritus,... |
ORPHA:330064 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... |
ORPHA:87503 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Erythroderma |
ORPHA:312 |
Erosive Pustular Dermatosis Of The Scalp |
|
Abnormal hair morphology, Scarring alopecia of scalp, Pustule |
ORPHA:222 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Decreased response to growth hormone stimulation test, Long eyeb... |
OMIM:275400 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails |
OMIM:242150 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Palmoplantar keratoderma, Nail dyst... |
ORPHA:79402 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Erythroderma |
OMIM:615022 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Edema, Pruritus, Hypopigmented skin patches, Hyperkeratosis, Irregul... |
ORPHA:2584 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Fine hair, Hyperkeratosis, Fragile nails, Keratoconjunctivitis sicca... |
OMIM:601675 |
Epidermolytic Hyperkeratosis 1 |
|
Palmoplantar hyperkeratosis, Erythroderma |
OMIM:113800 |
Hemifacial Atrophy, Progressive |
|
Blepharophimosis, Patchy alopecia, Horner syndrome, Poliosis |
OMIM:141300 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Erythroderma |
OMIM:604777 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl... |
OMIM:167210 |
Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Hypermelanotic macule, Abnormal hair morphology, Patchy palmoplantar hyperke... |
ORPHA:317 |
Omenn Syndrome |
|
Alopecia, Pneumonia, Edema, Pruritus, Thyroiditis, Erythroderma, Hypothyroidism, Aplasia/Hypoplas... |
ORPHA:39041 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Gen... |
ORPHA:2221 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Pigmentary retin... |
ORPHA:3363 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... |
OMIM:300918 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Telecanthus, Abnormal hair morphology, ... |
ORPHA:894 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... |
ORPHA:79133 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... |
ORPHA:79153 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia |
OMIM:212360 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperkeratosis, Palmopla... |
OMIM:148700 |
Copper Deficiency, Familial Benign |
|
Curly hair, Early balding, Seborrheic dermatitis |
OMIM:121270 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... |
ORPHA:129 |
Lelis Syndrome |
|
Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Palmoplantar hyperkeratosis, Hy... |
ORPHA:140936 |
Dermoodontodysplasia |
|
Sparse scalp hair, Melanocytic nevus, Hypohidrosis, Fingernail dysplasia, Trichodysplasia, Toenai... |
ORPHA:1660 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter... |
ORPHA:2796 |
Hawkinsinuria |
|
Sparse hair, Hypothyroidism, Fine hair |
ORPHA:2118 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Melanocytic nevus, Fine hair, Hyperkeratosis, Freckling, Pili torti |
ORPHA:1573 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Abnormal fingernail morphology, Severe periodontitis, Recu... |
ORPHA:678 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Profuse pigmented skin lesions, Erythroderma |
ORPHA:280785 |
Porphyria Cutanea Tarda, Type I |
|
Eczema, Hyperpigmentation of the skin, Hypertrichosis |
OMIM:176090 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Hypothyroidism |
OMIM:304790 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair |
ORPHA:1883 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Bifid ... |
ORPHA:1433 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... |
OMIM:615280 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Dehydration, Erythroderma |
ORPHA:457 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Sparse body hair |
ORPHA:85274 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... |
ORPHA:202 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypohidrosis, Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the ... |
ORPHA:181 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Pruritis on ... |
ORPHA:90280 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, ... |
OMIM:612843 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, Palmoplant... |
OMIM:308800 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Fine hair |
ORPHA:1174 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Thin nail, Sparse e... |
OMIM:257980 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Hypopigmented skin patches, Hepatitis, Hyperk... |
ORPHA:525 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis, Erythroderma |
OMIM:133190 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Thyroiditis, Patchy alopecia, Chronic oral candidi... |
OMIM:606367 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Paronychia, Erythroderma, Blepharitis, Onychogryposis |
OMIM:614328 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, W... |
OMIM:615821 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Erysipelas |
OMIM:615704 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... |
OMIM:614941 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Fine hair, Abnormality of skin pigmentation, Hyperkeratosis, Kera... |
ORPHA:1806 |
Bazex Syndrome |
|
Parakeratosis, Edema, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst... |
ORPHA:166113 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Pruritus, Orthokeratosis, ... |
OMIM:607626 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Hirsutism |
OMIM:604931 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Eczema, Chronic mucocutaneous candidiasis, Pedal edema, Hypohidrosis, Inflammation... |
ORPHA:98813 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Xerostomia, H... |
ORPHA:238468 |
Waardenburg Syndrome, Type 3 |
|
Telecanthus, Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature gray... |
OMIM:148820 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
Kid Syndrome |
|
Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ... |
ORPHA:477 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Synophrys, Hypopigmented skin... |
ORPHA:3440 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, ... |
ORPHA:3051 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Decreased testicular size, Sparse body hair |
ORPHA:261483 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hype... |
ORPHA:79395 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Hypohidrosis, P... |
ORPHA:158668 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... |
ORPHA:69735 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Epicanthus, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Ameloonychohypohidrotic Syndrome |
|
Hypohidrosis, Onycholysis, Seborrheic dermatitis |
OMIM:104570 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Tubulointerstitial nephritis... |
ORPHA:139402 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar keratoderma, Palmoplantar hype... |
ORPHA:659 |
Epidermodysplasia Verruciformis |
|
Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Multiple c... |
ORPHA:302 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair |
OMIM:614940 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Erythroderma |
OMIM:609180 |
Waardenburg Syndrome Type 3 |
|
Telecanthus, White hair, Blepharophimosis, Downslanted palpebral fissures, Thick eyebrow |
ORPHA:896 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Hyperhidrosis, Palmoplantar kera... |
OMIM:615726 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Ptosis |
ORPHA:53271 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Nail pits, Fine ... |
OMIM:308300 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch... |
OMIM:618282 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair |
OMIM:302960 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Hypopigmented skin patches,... |
ORPHA:1807 |
Even-Plus Syndrome |
|
Highly arched eyebrow, Synophrys, Atopic dermatitis, Sparse hair, Oligohydramnios |
OMIM:616854 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Palmoplantar hyperkeratosis, Hyperhidrosis, Arthritis, Eczematoid dermatitis |
OMIM:259100 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hyperhidrosis, Acne, Seborrheic dermatitis |
OMIM:614441 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Hypohidrosis, Hyperkeratosis, Palmopla... |
OMIM:242100 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... |
OMIM:158310 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mu... |
ORPHA:3214 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Otitis media, Erythroderma |
ORPHA:169160 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Hypopigmented streaks, Conjunctivitis, Blepharitis, Abnormality of the ... |
ORPHA:254478 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Sparse hair, Synophrys, Eczema, Thick eyebrow |
OMIM:611091 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Hypohidrosis, Dystrophic... |
ORPHA:3253 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, Eczema, Recurrent skin inf... |
OMIM:308205 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis |
OMIM:253260 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Erythroderma |
ORPHA:169154 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Chronic hepatitis, Uncombable hair, Colitis, Sparse hair, Woolly hair, Trichorrhexi... |
OMIM:614602 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Pal... |
OMIM:150400 |
Generalized Pustular Psoriasis |
|
Pustule, Cheilitis, Uveitis, Pedal edema, Arthritis, Palmoplantar pustulosis, Erythroderma, Abnor... |
ORPHA:247353 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hypohidrosis, Hyperkeratosis, On... |
ORPHA:1028 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Upper eyelid edema, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Sparse body hair |
ORPHA:1897 |
Omenn Syndrome |
|
Alopecia, Hypoplasia of the thymus, Pneumonia, Erythroderma |
OMIM:603554 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Lymphedema, Hypoplastic ... |
ORPHA:2930 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair, Periorbital hyperpigment... |
OMIM:224900 |
Ifap Syndrome 2 |
|
Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, ... |
OMIM:619016 |
Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Edema, Polyhydramnios, Cryptorchidism, Low posterior hairline, Multipl... |
OMIM:613224 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Oligohydramnios |
ORPHA:261304 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Abs... |
OMIM:148210 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Hypohidrosis, Hyperkeratosis, Sparse hair, Abnormal toenail morphology |
ORPHA:1005 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Cryptorchidism |
OMIM:273390 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko... |
OMIM:616295 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Nail dystrophy |
OMIM:614204 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Keratoconjunctivitis s... |
OMIM:234050 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Low posterior hairline |
ORPHA:2183 |
Filippi Syndrome |
|
Sparse hair, Cryptorchidism, Frontal hirsutism, Hypertrichosis |
OMIM:272440 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair |
ORPHA:1264 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots |
ORPHA:100 |
Diffuse Cutaneous Mastocytosis |
|
Pruritus, Peau d'orange, Mixed hypo- and hyperpigmentation of the skin, Erythroderma |
ORPHA:79456 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma |
ORPHA:1954 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... |
OMIM:618131 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, ... |
OMIM:305100 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... |
OMIM:300953 |
Brittle Cornea Syndrome 1 |
|
Red hair, Epicanthus |
OMIM:229200 |
Fg Syndrome 3 |
|
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Peeling Skin Syndrome 4 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy |
OMIM:607936 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Multiple lentigines, Vitiligo |
ORPHA:101003 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Conj... |
OMIM:106260 |
Monosomy 22 |
|
Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Hyperhidrosis, Joint swelling, Sparse hair |
ORPHA:96123 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N... |
ORPHA:79151 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Hyperhidrosis, Acne, Seborrheic dermatitis |
OMIM:167100 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Eczema, Erythroderma |
OMIM:619510 |
Squalene Synthase Deficiency |
|
Epicanthus, Abnormality of hair pigmentation |
OMIM:618156 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Leukonychia |
OMIM:617525 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Myositis, Skin rash, Pustule, Nail dystrophy, Periungual erythema,... |
OMIM:615934 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Hypohidrosis, Sparse hair |
ORPHA:2316 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Toenail dysplasia, Pedal edema, Hydrocele testis... |
ORPHA:79452 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair |
ORPHA:59303 |
Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Inflammation of the large intestine, Nail dystrophy, Erythroderma |
OMIM:615895 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... |
ORPHA:2963 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis |
OMIM:610768 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse e... |
ORPHA:1071 |
Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow, Hypohidrosis |
ORPHA:884 |
Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Small nail |
OMIM:617396 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczema |
OMIM:608118 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Infectious encephalitis |
ORPHA:540 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Erythroderma |
OMIM:610163 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Congenital exfoliative erythroderma, Ec... |
ORPHA:33364 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Hyperkeratosis with erythema, Coarse hair |
OMIM:118650 |
Peeling Skin Syndrome 6 |
|
Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis |
OMIM:618084 |
Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature ... |
OMIM:193500 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis |
OMIM:602723 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Seborrheic dermatitis |
OMIM:210210 |
Bone Marrow Failure Syndrome 3 |
|
Eczema, Pancreatic steatosis, Cryptorchidism, Hyperkeratosis, Hypomelanotic macule, Nail dystroph... |
OMIM:617052 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Adiposis Dolorosa |
|
Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Xerostomia, Arthritis, Hypoth... |
ORPHA:36397 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair, Bronchiectasis, Aspiration pneumonia, Oligohydramnios |
OMIM:618253 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Decreased testicular size, Fine hair |
ORPHA:251019 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased testicular size, Cryptorchidism, Increased circulating gonadotropin level, Sparse body ... |
OMIM:300869 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Palmoplantar ke... |
ORPHA:1010 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lymphadenitis, Alopecia |
ORPHA:90156 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Eczema, Hyperconvex nail |
OMIM:619721 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Cryptorchidism, Hypothyroidism, Fine hair |
OMIM:616817 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Eczema, Polyhydramnios, Cryptorchidism, Hyperkeratosis, Loose anag... |
OMIM:607721 |
Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Skin rash, Sparse eyebrow, Facial ede... |
ORPHA:2909 |
Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin, Hypopigmentation of the skin, Hyperpigmentation o... |
ORPHA:90158 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Hermansky-Pudlak Syndrome 11 |
|
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair |
OMIM:619172 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nasolacrimal duct obstruction,... |
OMIM:103285 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Sparse hair, Abnormal hair whorl, Cryptorchidism |
ORPHA:2872 |
Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin |
OMIM:309400 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... |
ORPHA:1787 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Generalized hyperpigmentation, Lymphedema, Abnormal eyelash morp... |
ORPHA:1340 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Atopic dermatiti... |
OMIM:115150 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... |
ORPHA:83617 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Abnormality of skin pigmentation, Alopecia, Nail dystrophy |
OMIM:616353 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Synophrys, Low anterior hairline, Fine hair, Sparse hair, Hypothyroidism |
ORPHA:391408 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, ... |
ORPHA:1775 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia, Hypothyroidism |
OMIM:617763 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Molluscum contagiosum, Aplasia of the eccrine sweat glands, Lymphedema |
OMIM:300291 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline |
OMIM:619320 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Hypohidr... |
OMIM:613451 |
Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, High anterior hairline, Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Hyperparakeratosis, Ovarian serous cystadenoma, Seborrheic dermatitis |
ORPHA:276280 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Angioedema, Chronic hepatiti... |
ORPHA:3260 |
Noonan Syndrome 14 |
|
Curly hair, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperhidrosis... |
OMIM:619745 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Telecanthus, Widow's peak, Upslanted palpebral fissure, Coars... |
ORPHA:1974 |
Fanconi Anemia, Complementation Group S |
|
Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse hair |
OMIM:617883 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,... |
OMIM:190350 |
Agel Amyloidosis |
|
Edema, Pruritus, Xerostomia, Keratoconjunctivitis sicca, Blepharochalasis, Nail dystrophy, Sparse... |
ORPHA:85448 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Epicanthus, Abnormality of hair texture, Upslanted palpebral fissure, B... |
ORPHA:96169 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Spar... |
ORPHA:217346 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair |
OMIM:620001 |
Complete Androgen Insensitivity Syndrome |
|
Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Bilateral cryptorchid... |
ORPHA:99429 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Pigmentary retinopathy, Polycystic ovaries |
OMIM:268020 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Psoriasiform dermatitis, Polyhydramnios, Hepatitis, Hypoplasia of the thymus, Nai... |
ORPHA:436252 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Hypopigmented skin patches, P... |
ORPHA:163746 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test... |
OMIM:129900 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Facial edema, Chei... |
ORPHA:293173 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Myositis, Psoriasiform dermatitis, Eczema, Pneumonia, Osteomyelitis, Recurrent skin inf... |
ORPHA:37042 |
Joubert Syndrome 37 |
|
Sparse hair, Cryptorchidism, Decreased testicular size |
OMIM:619185 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair |
OMIM:610756 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, Retinal pigment epithelial mottling |
OMIM:614105 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation of the large intestine,... |
ORPHA:29207 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hydrops fetalis, Fine hair, Nail dysplasia, Sparse hair, Ascites, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... |
ORPHA:2273 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Erythroderma |
OMIM:617425 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
Marshall Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Osteoarthritis, Hypohidrosis, Sparse hair |
ORPHA:560 |
Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Cryptorchidism, Decreased testicular size, Thick eyebrow |
ORPHA:127 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Anhidrosis, Sparse scalp hair, Hypohidrosis, Aplasia of the sweat glands, Sparse hair |
OMIM:612132 |
Macs Syndrome |
|
Alopecia, Palpebral edema, Sparse eyebrow, Cryptorchidism, Bronchiectasis, Recurrent aphthous sto... |
OMIM:613075 |
Letterer-Siwe Disease |
|
Stomatitis, Seborrheic dermatitis |
OMIM:246400 |
Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Low posterior hairline |
OMIM:613174 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased testicular size, Sparse body hair |
ORPHA:2234 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Hyperkeratosis, Interstitial pneumonitis, Hypopigmentation ... |
ORPHA:454831 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Reticular hyperpigmentation, Premature graying of hair, Interst... |
OMIM:127550 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju... |
OMIM:617321 |
Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Hyperpigmentation of the skin, Alopecia totalis, Facial edema, Cryptorchi... |
ORPHA:221008 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Ascites, Hypoplastic fing... |
ORPHA:974 |
Transketolase Deficiency |
|
Conjunctivitis, Uveitis, Seborrheic dermatitis |
ORPHA:488618 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland, Eczema, Thick eyebrow, Seborrheic dermatitis |
ORPHA:369950 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair, Cryptorchidism |
OMIM:219150 |
Scalp-Ear-Nipple Syndrome |
|
Abnormal fingernail morphology, Palpebral edema, Pyelonephritis, Hypohidrosis, Breast aplasia, Sp... |
ORPHA:2036 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Sparse hair |
OMIM:616200 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Polyhydramnios, Cryptorchidism, Synophrys, Hirsutism... |
OMIM:615485 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... |
ORPHA:294023 |
Leprosy |
|
Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Uveitis, Hypohidrosis, Hyperkeratos... |
ORPHA:548 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ... |
OMIM:258360 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... |
ORPHA:79430 |
Scarf Syndrome |
|
Sparse hair, Cryptorchidism, Hypoplastic nipples, Low posterior hairline |
ORPHA:3134 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Sparse hair, Anhidrosis, Eczema, Thin nail |
OMIM:617799 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ectropion, Ocular albinism, Iris hypopigmentation |
ORPHA:2719 |
Mandibuloacral Dysplasia |
|
Sparse hair, Abnormality of skin pigmentation, Alopecia, Hypoplastic fingernail |
ORPHA:2457 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Nail dysplasia, Sparse hair |
OMIM:613026 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair, Mottled pigmentation |
OMIM:608612 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Uveitis,... |
ORPHA:2108 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Palmoplan... |
ORPHA:2710 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline, Cafe-au-lait spot |
OMIM:250410 |
Premature Aging Syndrome, Penttinen Type |
|
Sparse hair, Hyperkeratosis, Corneal stromal edema, Palmoplantar hyperkeratosis |
OMIM:601812 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigmentation, Ridged fin... |
OMIM:268130 |
Hamamy Syndrome |
|
Hypoparathyroidism, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Spa... |
OMIM:611174 |
Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Sparse axillary hair, Sparse pubic hair, Fine hair, Pyelonephritis, Hypohidrosis... |
OMIM:181270 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Polyhydramnios, Cryptorchidism, Low posteri... |
OMIM:617506 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc... |
ORPHA:2232 |
Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Hyperpigmentation of the skin, Alopecia totalis, Facial edema, Cryptorchi... |
ORPHA:221016 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Eczema, Synophrys, Sparse hair, Toenail dysplasia, Chronic otitis media, Hirsutism |
OMIM:300966 |
Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... |
OMIM:268400 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Polyhydramnios, Fine hair, Sparse hair, Woolly hair, Cafe-au-lait spot,... |
OMIM:222470 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th... |
ORPHA:50814 |
Scarf Syndrome |
|
Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Sparse hair |
OMIM:312830 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Cryptorchidism, Low anterior hairline, Low p... |
OMIM:601358 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... |
OMIM:608156 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Polyhydramnios, Seborrheic dermatitis, Hydrops fetalis, Abnormality of skin pigmentation, Small nail |
OMIM:300868 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Acne, Polyhydramnios, Seborrheic dermatitis, Cryptorchidism,... |
ORPHA:567 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair, Recurrent pneumonia |
OMIM:616449 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Down Syndrome |
|
Sparse hair, Hypothyroidism |
ORPHA:870 |
Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Hypopigmented skin patches, Low posterior... |
ORPHA:233 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ascites, Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism |
OMIM:212066 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Frontal u... |
OMIM:176270 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
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Highly arched eyebrow, Polyhydramnios, Lymphedema, Cryptorchidism, Fine hair, Low posterior hairl... |
OMIM:613563 |
Osteogenesis Imperfecta, Type Xx |
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Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
Gapo Syndrome |
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Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... |
OMIM:230740 |
Mosaic Variegated Aneuploidy Syndrome 2 |
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Sparse hair, Cafe-au-lait spot, Hypothyroidism, Decreased response to growth hormone stimulation ... |
OMIM:614114 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
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Sparse hair, Cryptorchidism, Fine hair |
OMIM:614438 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Sparse body hair |
ORPHA:3068 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:612199 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Sparse hair, Cryptorchidism, Hypothyroidism |
OMIM:616541 |
Syndromic Diarrhea |
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Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... |
ORPHA:84064 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
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Sparse hair, Coarse hair, Thick hair |
ORPHA:357074 |
Weaver Syndrome |
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Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Melanocytic nevus, Sparse... |
OMIM:277590 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Sparse hair, Cryptorchidism, Decreased testicular size, Fine hair |
ORPHA:251028 |
Vici Syndrome |
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Hypopigmentation of hair, Epicanthus, Albinism, Ocular albinism, Hypopigmentation of the skin, Pt... |
OMIM:242840 |
Glass Syndrome |
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Sparse hair, Long eyelashes, Nail dysplasia |
OMIM:612313 |
Hallermann-Streiff Syndrome |
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Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Recurrent pneumonia, Fine ha... |
OMIM:234100 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Stellate ... |
ORPHA:177907 |
Stuve-Wiedemann Syndrome 1 |
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Sparse hair, Hyperhidrosis, Blotching pigmentation of the skin, Oligohydramnios |
OMIM:601559 |
Thrombocytopenia-Absent Radius Syndrome |
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Pancreatic cysts, Edema of the dorsum of feet, Edema of the dorsum of hands, Seborrheic dermatitis |
OMIM:274000 |
Oculodentodigital Dysplasia |
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Dry hair, Slow-growing hair, Uveitis, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
Cranioectodermal Dysplasia 3 |
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Sparse hair, Broad nail, Short nail, Fine hair |
OMIM:614099 |
Chime Syndrome |
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Sparse hair, Hyperkeratosis, Fine hair |
ORPHA:3474 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:98793 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis |
ORPHA:363618 |
Magel2-Related Prader-Willi-Like Syndrome |
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Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:177901 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail |
OMIM:614813 |
White-Sutton Syndrome |
|
Sparse hair |
OMIM:616364 |
Teebi-Shaltout Syndrome |
|
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair |
OMIM:272950 |
Orofaciodigital Syndrome Type 1 |
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Alopecia, Brittle hair, Pancreatic cysts, Coarse hair, Sparse hair, Chronic otitis media, Exocrin... |
ORPHA:2750 |
Goldberg-Shprintzen Syndrome |
|
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow |
OMIM:609460 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Cryptorchidism, Coarse hair, Forehead hyperpigmentation, Sparse hair |
OMIM:607812 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair |
OMIM:615349 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat... |
ORPHA:920 |
Prader-Willi Syndrome |
|
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Melanoc... |
OMIM:602535 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Fine hair |
OMIM:618891 |
Restrictive Dermopathy |
|
Short nail, Polyhydramnios, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the ... |
ORPHA:1662 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Polyhydramnios, Sparse eyebrow, Congenital hypothyroidism, ... |
OMIM:620186 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hydrocele testis, Hypoplastic nipp... |
OMIM:280000 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Breast hypoplasia, Hypoplasia of the ovary, Sparse body hair, Decreased testicula... |
ORPHA:432 |
Digeorge Syndrome |
|
Parathyroid agenesis, Acne, Seborrheic dermatitis, Recurrent pneumonia, Parathyroid hypoplasia, H... |
OMIM:188400 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Palpebral edema, Sparse eyebrow, Recurrent pneumonia, Recurrent otitis media, Spars... |
OMIM:252500 |
Opitz-Kaveggia Syndrome |
|
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair |
OMIM:305450 |
Cerebellar-Facial-Dental Syndrome |
|
Sparse hair, Cryptorchidism, Sparse eyebrow, Fine hair |
ORPHA:444072 |
Lysinuric Protein Intolerance |
|
Sparse hair, Pancreatitis, Fine hair |
OMIM:222700 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair, Cryptorchidism, Gout |
OMIM:300661 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Abnormal hair morphology, ... |
ORPHA:79474 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
Cockayne Syndrome B |
|
Anhidrosis, Dry hair, Abnormal hair morphology, Cryptorchidism, Abnormality of skin pigmentation,... |
OMIM:133540 |
Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair, Osteomyelitis |
ORPHA:565 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Acantho... |
ORPHA:95455 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse hair, Sparse eyebrow |
OMIM:244450 |
Cockayne Syndrome A |
|
Anhidrosis, Dry hair, Cryptorchidism, Retinal pigment epithelial mottling, Abnormality of skin pi... |
OMIM:216400 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Anterior pituitary hypoplasia, Highly arched eyebrow, Polyhydramnios, Sparse e... |
OMIM:619841 |
Cranioectodermal Dysplasia 2 |
|
Sparse eyelashes, Cholangitis, Polyhydramnios, Sparse eyebrow, Recurrent pneumonia, Hydrops fetal... |
OMIM:613610 |
De Barsy Syndrome |
|
Sparse hair, Cryptorchidism |
ORPHA:2962 |
Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Thin nail, Short nail, Fine hair, Tubulointerstitial nephritis, Sparse hair |
OMIM:218330 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Sparse hair, Cryptorchidism, Hypothyroidism, Exocrine pancreatic insufficiency |
OMIM:620005 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Hyperkeratosis, S... |
OMIM:210710 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sparse hair, Nail dystrophy, Sparse eyebrow, Palmoplantar hyperkeratosis |
OMIM:619127 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Sparse hair |
OMIM:311200 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Eczema, Polyhydramnios, Pseudohypoparathyroidism, Sparse hair, Frontal hirsutism |
OMIM:617157 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ptosis, Abnormal eyelash morphology, Synop... |
OMIM:619488 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Epicanthus, Abnormal eyelash morphology, Upslanted palpebral fissure, D... |
ORPHA:818 |
Cartilage-Hair Hypoplasia |
|
Sparse hair, Abnormality of retinal pigmentation, Sparse eyebrow |
ORPHA:175 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased testicular size, Elevated circulating luteinizing hormone level, Sparse axillary hair, ... |
ORPHA:90796 |
Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Decreased testicular size, Fine hair |
OMIM:241080 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Chronic gastritis, Bilateral cryptorchidism, Recurrent pneumonia, Hyperhidrosi... |
OMIM:150230 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Polyhydramnios, Concave nail, Fragile nails, Sparse hair, ... |
OMIM:218040 |
Myhre Syndrome |
|
Pericardial effusion, Cryptorchidism, Fine hair, Sparse hair, Thick eyebrow |
OMIM:139210 |
Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Cryptorchidism, Reticu... |
OMIM:305600 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair |
OMIM:619934 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Pigmentary retinopathy, Recurrent pancreatitis, Sparse hair, Pleural effusion |
OMIM:606721 |
Roberts Syndrome |
|
Sparse hair, Cryptorchidism, Polyhydramnios |
ORPHA:3103 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Sparse hair, Cryptorchidism, Anterior pituitary hypoplasia |
OMIM:151050 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Hyperthyroidism, Recurrent skin infections, Decreased response to growth hormo... |
ORPHA:3455 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail |
OMIM:200110 |
Cystinosis, Nephropathic |
|
Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... |
OMIM:219800 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair |
ORPHA:2636 |
Renpenning Syndrome 1 |
|
Sparse hair, Brittle hair, Decreased testicular size, Sparse lateral eyebrow |
OMIM:309500 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Sparse hair, Cryptorchidism, Nail dysplasia |
OMIM:616682 |
Neurocardiofaciodigital Syndrome |
|
Sparse hair, Sparse eyebrow |
OMIM:619869 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Edema of the dorsum of feet, Sparse eyelashes, Anhidrosis, Supernume... |
OMIM:601803 |
Branchiooculofacial Syndrome |
|
Supernumerary nipple, Cryptorchidism, Low posterior hairline, Premature graying of hair, White fo... |
OMIM:113620 |
Wrinkly Skin Syndrome |
|
Sparse hair, Cryptorchidism, Short nail, Fragile nails |
OMIM:278250 |
Menke-Hennekam Syndrome 1 |
|
Sparse hair, Cryptorchidism, Long eyelashes, Thick eyebrow |
OMIM:618332 |
Primrose Syndrome |
|
Sparse scalp hair, Absent facial hair, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Hypot... |
OMIM:259050 |
Wrinkly Skin Syndrome |
|
Sparse hair, Cryptorchidism |
ORPHA:2834 |
Roberts-Sc Phocomelia Syndrome |
|
Sparse hair, Cryptorchidism, Cafe-au-lait spot, Polyhydramnios |
OMIM:268300 |