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Items: 4

1.

Haim-Munk syndrome

Haim-Munk syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, severe periodonitis, arachnodactyly, acroosteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers (summary by Hart et al., 2000). [from OMIM]

MedGen UID:
344539
Concept ID:
C1855627
Disease or Syndrome
2.

Keratoderma with scleroatrophy of the extremities

Huriez syndrome (HRZ) is characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nail changes. The development of aggressive squamous cell carcinoma (SCC) in areas of affected skin is a distinctive feature of the syndrome, occurring in approximately 15% of patients. HRZ-associated SCC shows early onset, mostly in the third to fourth decades of life, and early metastasis formation (summary by Lee et al., 2000). See also 610644 for description of a disorder resembling Huriez syndrome, involving palmoplantar hyperkeratosis and squamous cell carcinoma in association with SRY (480000)-negative female-to-male XX sex reversal, caused by mutation in the RSPO1 gene (609595). [from OMIM]

MedGen UID:
98360
Concept ID:
C0406767
Congenital Abnormality
3.

Keratoderma-ichthyosis-deafness syndrome, autosomal recessive

Autosomal recessive keratoderma-ichthyosis-deafness syndrome (KDIDAR) is characterized by severe palmoplantar keratoderma, mild generalized ichthyosis, and progressive sensorineural deafness. Other variable features include contractures, mild bleeding diathesis, and psychomotor retardation (Gruber et al., 2017). [from OMIM]

MedGen UID:
1823973
Concept ID:
C5774200
Disease or Syndrome
4.

Congenital palmoplantar hyperkeratosis

Abnormal thickening of the skin on the palms and soles that is present at birth. [from HPO]

MedGen UID:
383728
Concept ID:
C1855633
Congenital Abnormality; Finding
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