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GTR Home > Conditions/Phenotypes > Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay

Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay

Synonyms
SHORT STATURE-MICROGNATHIA SYNDROME

Summary

The core features of short stature-micrognathia syndrome (SSMG) are intrauterine growth restriction (IUGR), postnatal short stature that is often rhizomelic, and micrognathia. Other common features include preterm birth, microcephaly, developmental delay, and genitourinary malformations in males. Transient liver dysfunction and glycosylation abnormalities during illness, giant cell hepatitis, hepatoblastoma, and cataracts have also been observed. Inter- and intrafamilial phenotypic severity varies greatly, from a relatively mild disorder to intrauterine death or stillbirth (Ritter et al., 2022). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COPD, SRMMD, SSMG, ARCN1
    Summary: archain 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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