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Van der Woude syndrome

Congenital Malformations and Chromosomal Abnormalities

Van der Woude syndrome is a genetic disorder defined by the combination of lower lip pits, cleft lip with or without cleft palate, and cleft palate occurring alone. Orofacial clefts occur at a frequency of roughly 1 in 1000 to 1 in 500 births worldwide, and more than 400 syndromes involve a cleft lip or palate, but this one is distinct because cleft lip with palate and cleft palate only can both appear within the same family. Other features frequently associated with the syndrome include missing teeth in a large share of cases, a narrow arched palate, congenital heart disease, heart murmur, cerebral abnormalities, fused fingers or toes, extra nipples, a short tongue-tie and adhesions between the upper and lower gum pads. This entry records the condition as a congenital malformation syndrome and does not give medical advice.

Facts
Classification
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1
Communicable or Non-communicable
Non-Communicable 2
Transmission Route
Non-Transmissible 3
First Described
1954 2
Prevalence Band
Rare (Under 1 in 2000) 4
Causative Agent
Causative Agent (category)
Genetic / Hereditary 2
Sources
1. Orphadata (Orphanet): Orphadata cross-references for ORPHA:888 Van der Woude syndrome
Orphadata (Orphanet)ICD-10 cross-reference
Quote, ICD-10 cross-reference
"Reference": "Q38.0", "Source": "ICD-10"
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2. Van der Woude syndrome (Wikipedia)
  • Lead sentence
    is a genetic disorder
  • Lead
    The association between lower lip pits and cleft lip and/or palate was first described by Anne Van der Woude in 1954.
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3. MedlinePlus Genetics (U.S. National Library of Medicine): Van der Woude syndrome - MedlinePlus Genetics
MedlinePlus Genetics (U.S. National Library of Medicine)Description and Inheritance
Quote, Description and Inheritance
This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
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4. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:888
Quote, ORPHA:888
Point prevalence Value and class 1-9 / 100 000
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