Preferred Label : Osteopathia striata with cranial sclerosis;
Symbol : OSCS;
CISMeF acronym : OSCS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Hyperostosis generalisata with striations;
Description : Osteopathia striata with cranial sclerosis (OSCS) is an X-linked dominant sclerosing
bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning
disabilities, sclerosis of the long bones and skull, and longitudinal striations visible
on radiographs of the long bones, pelvis, and scapulae (Jenkins et al., 2009). In
males this entity is usually associated with fetal or neonatal lethality. Occasional
surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary
malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement
and to disability due to pressure on cranial nerves, e.g., deafness. Osteopathia striata
is a frequent feature of focal dermal hypoplasia (FDH; 305600). Although early reports
of familial cases of this disorder appeared to suggest autosomal dominant inheritance
(see, e.g., Horan and Beighton, 1978 and Konig et al., 1996), reappraisal of the literature
(Behninger and Rott, 2000; Rott et al., 2003) and the finding of a molecular basis
for the disorder by Jenkins et al. (2009) confirms that the inheritance pattern is
X-linked dominant. Affected males who survive have a more severe phenotype than affected
females, and sporadic male cases may result from somatic mosaicism (Behninger and
Rott, 2000).;
Inheritance : X-linked dominant;
Molecular basis : Caused by mutation in the APC membrane recruitment protein 1 gene (AMER1, 300647.0001);
Prefixed ID : #300373;
Origin ID : 300373;
UMLS CUI : C0432268;
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)
