Spondylocostal Dysostosis, Autosomal Recessive 2

Alternative Names

SCDO2

Associated Genes

Mesoderm Posterior Basic Helix-Loop-Helix Transcription Factor 2

Back to search Result

WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

608681

Mode of Inheritance

Autosomal recessive

Gene Map Locus

15q26.1

Description

Autosomal recessive spondylocostal dysostosis type 2 is a member of the heterogeneous group of disorders termed the spondylocostal dysostoses. These are characterized by multiple vertebral segmentation defects and rib anomalies. Radiologically, the disease is characterized by vertebral malformations including hemivetebra, block vertebra, fused vertebra and spina bifida and deformities of the ribs that include absent ribs and bifid or fused ribs, which give the typical "crab like", or "fan like" appearance. SCDO2 presents with few clinical featuers involving truncal shortening and short necks.

Epidemiology in the Arab World

View Map

Lebanon

Subject ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
608681.1.1	Lebanon	Male	No	Yes	Neonatal short-trunk short stature; Sh... Neonatal short-trunk short stature; Short neck	NM_001039958.2:c.500_503dup	Homozygous	Autosomal, Recessive	Whittock et al, 2004
608681.1.2	Lebanon	Female	No	Yes	Neonatal short-trunk short stature; ... Neonatal short-trunk short stature; Short neck	NM_001039958.2:c.500_503dup	Homozygous	Autosomal, Recessive	Whittock et al, 2004	sibling of the proba...