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GTR Home > Conditions/Phenotypes > Aplasia cutis congenita

Aplasia cutis congenita

Synonyms
Aplasia cutis congenita (disease); Aplasia cutis congenita nonsyndromic; Congenital defect of skull and scalp; Scalp defect congenital
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). Approximately 20 to 30% of cases have underlying osseous involvement (Elliott and Teebi, 1997). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported. Cutaneous aplasia of the scalp vertex also occurs in Johanson-Blizzard syndrome (243800) and Adams-Oliver syndrome (AOS; 100300). A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS; 194190) (Hirschhorn et al., 1965; Fryns et al., 1973). Evers et al. (1995) provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. They also tabulated points of particular significance in history taking and examination of patients with ACC. [from OMIM]

Available tests

11 tests are in the database for this condition.

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Clinical tests (10 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: ACC, BMS1L, BMS1
    Summary: BMS1 ribosome biogenesis factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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