Preferred Label : Spondylometaphyseal dysplasia, type a4;
Symbol : SMDA4;
Type : Phenotype or locus, molecular basis unknown;
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), 'Corner fracture' (184255), 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.
Duetting et al. (1998) presented 2 cases of this form of spondylometaphyseal dysplasia
and suggested that the inheritance may be autosomal recessive. One of their patients,
a Turkish boy, was the child of consanguineous parents. Percin et al. (2004) reported
a case of type A4 spondylometaphyseal dysplasia in a 3.5-year-old Turkish girl, born
of nonconsanguineous healthy parents. The mother was 40 years old and the father 47.
Characteristic ovoid vertebral bodies with anterior tongue-like deformities, widened
irregular and sclerotic metaphyseal changes, short iliac wings, slightly short long
bones, and short tubular bones of the hands with irregular metaphyses were described.
She also had bipartite trochlea and irregular patellar margins, which had not previously
been described in spondylometaphyseal dysplasia. The trochlea is the articular surface
on the medial condyle of the humerus that articulates with the ulna. *FIELD* RF 1.
Duetting, T.; Schulze, A.; Troeger, J.; Spranger, J.: A rare form of spondylometaphyseal
dysplasia-type 4A. Am. J. Med. Genet. 78: 61-66, 1998. 2. Maroteaux, P.; Spranger,
J.: The spondylometaphyseal dysplasias: a tentative classification. Pediat. Radiol.
21: 293-297, 1991. 3. Percin, E. F.; Tukenmez, M.; Percin, S.: A case with spondylo-metaphyseal
dysplasia type A4. Genet. Counsel. 15: 363-369, 2004. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : %609052;
Origin ID : 609052;
UMLS CUI : C1836862;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
