Preferred Label : Aplasia cutis congenita, nonsyndromic;
Symbol : ACC;
CISMeF acronym : ACC;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Congenital defect of skull and scalp; Scalp defect, congenital;
Description : 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.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the BMS1 ribosome biogenesis factor gene (BMS1, 611448.0001);
Prefixed ID : #107600;
Origin ID : 107600;
UMLS CUI : C0282160;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
