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Hypomelia-hypotrichosis-facial hemangioma syndrome
Other Resources UpToDate PubMed

Hypomelia-hypotrichosis-facial hemangioma syndrome

Other Resources UpToDate PubMed

Synopsis

Hypomelia-hypotrichosis-facial hemangioma syndrome (Roberts syndrome or Roberts-SC phocomelia syndrome) is a rare autosomal recessive genetic condition associated with high mortality. Caused by a defect on gene ESCO2. Characterized by pre- and postnatal growth retardation and significant intellectual disability, though cases with normal cognition have been reported. Craniofacial abnormalities may include microbrachycephaly, flat nose, cleft lip / palate, hypertelorism, sparse hair, proptosis, micrognathia, and facial hemangioma. All 4 limbs may be underdeveloped or absent. Abnormalities of the limbs include contracture, clinodactyly, syndactyly, club foot, and phocomelia. The genitourinary system is commonly found to have abnormal structures; rarely, renal and cardiac defects occur.

Treatment is based on the presence and severity of symptoms.

Codes

ICD10CM:
Q73.1 – Phocomelia, unspecified limb(s)

SNOMEDCT:
48718006 – Roberts-SC phocomelia syndrome

References

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Last Updated:01/15/2016
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Hypomelia-hypotrichosis-facial hemangioma syndrome
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Hypomelia-hypotrichosis-facial hemangioma syndrome : Hypertelorism, Microcephaly, Micrognathia, Present at birth, Proptosis
Copyright © 2021 VisualDx®. All rights reserved.