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Pallister-W syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Median cleft upper lip, mental retardation and pugilistic facies; W syndrome
SNOMED CT: Pallister W syndrome (719020006); W syndrome (719020006)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
Concept ID:
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Monarch Initiative: MONDO:0010708
OMIM®: 311450
Orphanet: ORPHA2804


A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of 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) has also been described. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPallister-W syndrome
Follow this link to review classifications for Pallister-W syndrome in Orphanet.

Recent clinical studies


Cardiologia (Basel) 1956;29(4):278-90. PMID: 13383481

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