Preferred Label : Spondylometaphyseal dysplasia, east african type;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : The spondylometaphyseal dysplasias are a relatively common, heterogeneous group of
disorders characterized by spinal and metaphyseal changes of variable pattern and
severity. The Kozlowski (184252) and Sedaghatian (250220) types are well defined.
Many other forms have been described in single reports. The classification of spondylometaphyseal
dysplasias of Maroteaux and Spranger (1991) was based on changes of the femoral neck
and the shape of vertebral anomalies. In this classification, type A4 referred to
a form with severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral
bodies with anterior tongue-like deformities. Verloes et al. (2002) described 2 unrelated
girls of east African origin with a severe form of SMD with rounded vertebrae. Radiologic
examination revealed wide, bracket-shaped metaphyses and small, round epiphyses. The
iliac wings were wide and rounded and the iliac rims had an irregular lacy appearance.
Vertebral bodies were oval. Verloes et. al. (2002) concluded that their patients were
similar to the SMD type A4; however, their patients did not have anterior tonguing
of the vertebral bodies. *FIELD* RF 1. Maroteaux, P.; Spranger, J.: The spondylometaphyseal
dysplasias: a tentative classification. Pediat. Radiol. 21: 293-297, 1991. 2. Verloes,
A.; Lepage, P.; Baumann, C.; Maroteaux, P.; and LeMerrer, M.: Spondylometaphyseal
dysplasia, East-African type: a new form of early, severe SMD with rounded vertebrae.
Am. J. Med. Genet. 113: 362-366, 2002. *FIELD* CS Isolated cases;
Inheritance : Isolated cases;
Prefixed ID : 611702;
Origin ID : 611702;
UMLS CUI : C2673686;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
