Alternative titles; symbols
SNOMEDCT: 719166003; ORPHA: 156728;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 2p24.1 | Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type | 608728 | Autosomal recessive | 3 | MATN3 | 602109 |
A number sign (#) is used with this entry because of evidence that the Borochowitz-Cormier-Daire type of spondyloepimetaphyseal dysplasia (SEMDBCD) is caused by homozygous mutation in the matrilin-3 gene (MATN3; 602109) on chromosome 2p24.
The Borochowitz-Cormier-Daire type of spondyloepimetaphyseal dysplasia (SEMDBCD) is a rare type of autosomal recessive short-limb short-trunk dwarfism. Affected individuals have significant short stature with pronounced leg bowing, lumbar lordosis, and a waddling gait (summary by Borochowitz et al., 2004 and Shyamasundar et al., 2020).
Borochowitz et al. (2004) described a large consanguineous Arab Muslim family with autosomal recessive spondyloepimetaphyseal dysplasia. Affected individuals presented with disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis, and normal hands. Skeletal findings included short, wide, and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones, and flat, ovoid vertebral bodies.
Shyamasundar et al. (2020) described a 22-month-old Indian child, born to nonconsanguineous parents, with short stature and rhizomelic limb shortening with significant joint hyperlaxity. Other features included bilateral widened wrists and ankles, pectus carinatum, bilateral genu valgum, and planovalgus feet. Radiographs showed metaphyseal widening with splaying of the distal radius, ulna, and metacarpal metaphyses. Capital femoral epiphyses were unossified, and platyspondyly was present.
The transmission pattern of SEMDBCD in the family reported by Borochowitz et al. (2004) was consistent with autosomal recessive inheritance.
In affected members of a consanguineous Arab family segregating SEMD, Borochowitz et al. (2004) identified a homozygous missense mutation in the MATN3 gene (C304S; 602109.0005). Heterozygotes in the family had no clinical or radiographic abnormalities.
In a 22-month-old Indian child with SEMD, Shyamasundar et al. (2020) identified a homozygous missense mutation in the MATN3 gene (T120M; 602109.0008). The mutation, which was found by exome sequencing, was present in heterozygous state in the parents.
Borochowitz, Z. U., Scheffer, D., Adir, V., Dagoneau, N., Munnich, A., Cormier-Daire, V. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. (Letter) J. Med. Genet. 41: 366-372, 2004. [PubMed: 15121775] [Full Text: https://doi.org/10.1136/jmg.2003.013342]
Shyamasundar, L. G., Loganathan, L., Kumar, A., Selina, A., Madhuri, V. MATN3 mutation causing spondyloepimetaphyseal dysplasia. (Letter) Indian J. Pediat. 87: 227-228, 2020. [PubMed: 31724101] [Full Text: https://doi.org/10.1007/s12098-019-03100-5]