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arterial tortuosity syndrome
Atrophia Maculosa Varioliformis Cutis, Familial
Autoinflammation with Arthritis and Dyskeratosis
autosomal recessive congenital ichthyosis +
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
Beare-Stevenson cutis gyrata syndrome
Blepharophimosis with Ptosis, Syndactyly, and Short Stature
blepharophimosis, ptosis, and epicanthus inversus syndrome +
Bloch-Sulzberger syndrome +
bullous congenital ichthyosiform erythroderma
Buschke-Ollendorff syndrome
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Cutaneous Bullous Amyloidosis
Cutaneous Hemangiomatosis with Associated Features
Defect in Hyaluronan Metabolism
Dermal Ridges, Nelson Syndrome
Diffuse Mesangial Sclerosis
dyschromatosis universalis hereditaria +
epidermolytic hyperkeratosis +
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
erythrokeratodermia variabilis +
Familial Dyskeratotic Comedones
Familial Popliteal Pterygium Syndrome
Familial Reactive Perforating Collagenosis
fetal encasement syndrome
geroderma osteodysplasticum
Hereditary Autoinflammatory Diseases +
Hereditary Benign Intraepithelial Dyskeratosis
Hereditary Sclerosing Poikiloderma +
Histiocytic Dermatoarthritis
hyaline fibromatosis syndrome
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations
Hypohidrosis with Abnormal Palmar Dermal Ridges
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
inflammatory poikiloderma with hair abnormalities and acral keratoses
Juvenile Spring Eruption of Ears
Keratolytic Winter Erythema
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
multiple benign circumferential skin creases on limbs +
Multiple Noduli Cutanei with Urinary Tract Abnormalities
Multiple Self-healing Palmoplantar Carcinoma
nephrotic syndrome type 5
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities
Oculocerebrocutaneous Syndrome
orofaciodigital syndrome IX
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
Parana Hard Skin Syndrome
Patternless Dermal Ridges
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts
plasminogen deficiency type I
poikiloderma with neutropenia
primary cutaneous amyloidosis +
progressive osseous heteroplasia
Progressive Vitiligo with Mental Retardation and Urethral Duplication
pseudoxanthoma elasticum +
Ridges-off-the-end Syndrome
Rothmund-Thomson syndrome +
Sclerosing Bone Dysplasia, Mental Retardation
Sclerosing Lymphocytic Lobulitis
Sjogren-Larsson syndrome +
Skin/Hair/Eye Pigmentation, Variation In, 1
Skin/Hair/Eye Pigmentation, Variation In, 10
Skin/Hair/Eye Pigmentation, Variation In, 11
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2
Skin/Hair/Eye Pigmentation, Variation In, 3
Skin/Hair/Eye Pigmentation, Variation In, 4
Skin/Hair/Eye Pigmentation, Variation In, 5
Skin/Hair/Eye Pigmentation, Variation In, 6
Skin/Hair/Eye Pigmentation, Variation In, 7
Skin/Hair/Eye Pigmentation, Variation In, 8
spinocerebellar ataxia type 34
Ullrich congenital muscular dystrophy +
Urban Schosser Spohn Syndrome
Vohwinkel Syndrome, Variant Form
Winter Shortland Temple Syndrome
X-linked reticulate pigmentary disorder
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