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GTR Home > Conditions/Phenotypes > Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Synonyms
Cleft palate, psychomotor retardation, and distinctive facial features
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies. [from ORDO]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AOF2, BHC110, CPRF, KDM1, LSD1, KDM1A
    Summary: lysine demethylase 1A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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