Preferred Label : Lambert syndrome;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia;
Description : Lambert et al. (1982, 1990) observed 4 sibs with branchial dysplasia, mental deficiency,
clubfoot, inguinal hernia, and cholestasis due to paucity of interlobular bile ducts.
Facial and ear anomalies included malar hypoplasia, macrostomia, preauricular tags,
and meatal atresia. Clubfoot was present in 3 of the 4 affected sibs and hypospadias
in at least 2 of the 3 affected boys. The parents were first cousins. Both were in
their twenties. A distant cousin died from jaundice in the neonatal period. Liver
biopsy after death showed complete intrahepatic biliary atresia. Although this syndrome
has many similarities to Alagille syndrome (see 118450), an autosomal dominant, it
is probably distinct. *FIELD* RF 1. Lambert, J. C.; Ayraud, N.; Martin, J.; Mariani,
R.; Ferrari, M.; Donzeau, M.: Familial occurrence of a syndrome with branchial dysplasia,
mental deficiency, club feet, and inguinal herniae. J. Med. Genet. 19: 214-215, 1982.
2. Lambert, J. C.; Saint-Paul, M. C.; Bastiani, F.; Paquis, V.; Saunieres, A. M.:
Branchial dysplasia, mental deficiency, club feet, and inguinal herniae: a report
of two further cases associated with paucity of interlobular bile ducts. J. Med. Genet.
27: 330-332, 1990. *FIELD* CS;
Inheritance : Autosomal recessive;
Prefixed ID : 245550;
Origin ID : 245550;
UMLS CUI : C1855551;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
