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SynopsisCodesBest TestsReferences
Robinow syndrome
Other Resources UpToDate PubMed

Robinow syndrome

Other Resources UpToDate PubMed

Synopsis

Rare autosomal recessive or autosomal dominant inherited condition characterized by short stature, macrocephaly, high-arched palate, genital hypoplasia, and umbilical abnormalities. Autosomal dominant form is more common and presents with a combination of skeletal, craniofacial, and dental anomalies, sometimes associated with osteosclerosis of the skull and normal stature. The autosomal recessive form presents with more severe skeletal dysplasia, craniofacial dysmorphisms, and dwarfism with short limbs. Cardiac defects and scoliosis have been observed in the recessive form.

Codes

ICD10CM:
Q87.19 – Other congenital malformation syndromes predominantly associated with short stature

SNOMEDCT:
76520005 – Robinow syndrome

Best Tests

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References

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Last Updated:01/26/2016
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Robinow syndrome
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A medical illustration showing key findings of Robinow syndrome : High arched palate, Hypertelorism, Limb hypoplasia, Nasal bridge wide, Short stature, Trichomegaly
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