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

Orpha code: 477993OMIM code: 616728

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
Zespół wad podniebienia, mnogich diastem, dysmorfii twarzy i opóźnienia w rozwoju
ORPHA code
477993
OMIM code
616728
ICD10 code
-
ICD11 code
-

No additional description.

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