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Skin Abnormalities
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Definition
: Congenital structural abnormalities of the skin.
for congen struct abnorm only; GEN or unspecified; prefer specifics; DF: SKIN ABNORM
Examples
Acrodermatitis
;
Carney Complex
;
Dyskeratosis Congenita
;
Ectodermal Dysplasia
;
Ehlers-Danlos Syndrome
;
Epidermolysis Bullosa
;
Ichthyosis
;
Incontinentia Pigmenti
;
Port-Wine Stain
;
Prolidase Deficiency
;
Pseudoxanthoma Elasticum
;
Rothmund-Thomson Syndrome
;
Sclerema Neonatorum
;
Trichothiodystrophy Syndromes
;
Xeroderma Pigmentosum
Other names
Skin Abnormality; Abnormality, Skin; Abnormalities, Skin
Substance
CAS Registry & name
Categories
Source
Oculocerebrocutaneous syndrome
0
*Eye Abnormalities
*Skin Abnormalities
*Central Nervous System Cysts
Fingers/abnormalities.
Barber Say syndrome
0
*Eyelid Diseases
*Hirsutism
*Hypertelorism
*Hypertrichosis
*Macrostomia
*Skin Abnormalities.
Michelin tire baby syndrome
0
*Cutis Laxa/congenital
*Hamartoma
*Skin Abnormalities.
Tight skin contracture syndrome, lethal
0
*Contracture
*Skin Abnormalities.
Winter Shortland Temple syndrome
0
*Skin Abnormalities
*Syndactyly
*Craniofacial Abnormalities
Intestines/abnormalities.
Urban Schosser Spohn syndrome
0
*Alopecia
*Keratosis
*Skin Abnormalities
Mucous Membrane.
Blepharophimosis with ptosis, syndactyly, and short stature
0
*Growth Disorders
*Skin Abnormalities
*Syndactyly
*Blepharophimosis.
Blepharophimosis syndrome type 2
0
*Skin Abnormalities
*Blepharophimosis.
Blepharophimosis syndrome type 1
0
*Menopause, Premature
*Skin Abnormalities
*Blepharophimosis.
Hairy palms and soles
0
*Foot Deformities, Congenital
*Hair Diseases
*Hand Deformities, Congenital
*Skin Abnormalities.
Ridges-
off-
the-
end syndrome
0
*Skin Abnormalities.
