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GTR Home > Conditions/Phenotypes > Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

Synonyms
Cerebrofaciothoracic dysplasia; Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1) is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter. Facial dysmorphisms include flat face, hypertelorism, epicanthal folds, synophrys, broad nasal bridge, cleft lip and cleft palate, and low-set posteriorly rotated ears. Patients also exhibit short neck and multiple costal and vertebral anomalies. The face is rather characteristic, and various authors have consistently reported affable/friendly personality, despite intellectual delay (summary by Alanay et al., 2014). Genetic Heterogeneity of Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome CFSMR2 (616994) is caused by mutation in the RAB5IF gene (619960) on chromosome 20q11. [from OMIM]

Available tests

15 tests are in the database for this condition.

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Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CFSMR1, HP10122, PCIA3, PNAS-136, TMCC4, TMCO1
    Summary: transmembrane and coiled-coil domains 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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