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Items: 6

1.

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). [from ORDO]

MedGen UID:
162901
Concept ID:
C0796031
Disease or Syndrome
2.

Scleroderma, familial progressive

Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome. [from OMIM]

MedGen UID:
356661
Concept ID:
C1866983
Disease or Syndrome
3.

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. [from ORDO]

MedGen UID:
461281
Concept ID:
C3149931
Disease or Syndrome
4.

Reynolds syndrome

An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive. [from SNOMEDCT_US]

MedGen UID:
450547
Concept ID:
C0748397
Disease or Syndrome
5.

Autosomal recessive palmoplantar keratoderma and congenital alopecia

Palmoplantar keratoderma and congenital alopecia-2 (PPKCA2) is an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation. Nail changes occur in some patients (Castori et al., 2010). Also see PPKCA1 (104100), a less severe, autosomal dominant disorder. [from OMIM]

MedGen UID:
347851
Concept ID:
C1859316
Disease or Syndrome
6.

Sclerodactyly

Localized thickening and tightness of the skin of the fingers or toes. [from HPO]

MedGen UID:
472893
Concept ID:
C0150988
Disease or Syndrome
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