W syndrome

Orpha code: 2804OMIM code: 311450

Definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) have also been described.

Disease data
Classification

Malformation syndrome

Synonyms
Pallister-W syndrome
Zespół Pallistera i W
ORPHA code
2804
OMIM code
311450
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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