Humeroradial Synostosis with Craniofacial Anomalies

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

236410

Mode of Inheritance

Autosomal recessive

Description

Humeroradial Synostosis with Craniofacial Anomalies is an extremely rare skeletal condition characterized by humero-radial synostosis, rhizomelic limb shortening, and a distinctive craniofacial appearance, including high broad forehead and frontal hairline, sparse scalp hair, hypertelorism, epicanthus inversus, depressed nasal bridge, and exstropia, among others. So far, the condition has only been reported in two sisters in a Saudi family.

Molecular Genetics

The molecular basis of this condition is unknown. However, it is likely that it follows an autosomal recessive mode of inheritance.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Al-Hassnan and Teebi (2007) were the first to describe HRS and rhizomelic shortness in association with distinctive craniofacial anomalies. The patients studied were two sisters born to a consanguineous Saudi couple. The older of the two sisters was noted to have fixed elbows and dysmorphic features at birth. Evaluation at 6-months of age confirmed this distinctive craniofacial appearance, which was characterized by a very large anterior fontanel, cranium bifidum occultum, high and broad forehead, high frontal hairline, sparse scalp hair, medial thinning of the eyebrows, hypertelorism, epicanthus inversus, depressed nasal bridge, exotropia, low-set ears, short neck, and capillary hemangiomata covering the forehead, nose, and the back of the scalp. Rhizomelic limb shortness was observed, with normal hands and feet. Skeletal survey showed a fixed flexion deformity of both elbows, as well as bilateral humero-radial synostosis, with no evidence of craniosynostosis. There was mild bilateral hydronephrosis. Brain scan at 11-months of age showed plagiocephaly, with cranium bifidum and midline frontal interposition of bone. Karyotype was normal. Her younger sister had similar facial features, as well as fixed flexion deformity of the elbows and bilateral HRS. Both sisters were mildly delayed in attaining developmental milestones, and had height below the 3rd centile. Al-Hassnan and Teebi (2007) considered various syndromic and non-syndromic conditions to diagnose the condition in these sisters. However, they concluded that the constellation of the features in this family was unique and that it represented a previously unrecognized syndrome, possibly autosomal recessive in nature.

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