Lambert syndrome

Also known as: Branchial dysplasia-intellectual disability-inguinal hernia syndrome

Definition

Orphanet

Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Wide mouth Macrostomia, Large mouth, Broad mouth, Large oral aperture [more] Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Malar flattening Hypotrophic malar bone, Malar hypoplasia, Decreased size of malar bone, Zygomatic flattening, Underdevelopment of malar bone, Depressed malar region [more] Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Talipes equinovarus Equinovarus, Foot, talipes equinovarus, Pes equinovarus, Clubfeet, Club feet, Pes equinus, Club foot, Clubfoot [more] Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
Cholestasis Impairment of bile flow due to obstruction in bile ducts.
Preauricular skin tag Skin tag on the posterior cheek, Preauricular acrochordon, Periauricular skin tag, Skin tag in front of the ear, Preauricular tags, Preauricular fibroepithelial polyp [more] A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
Clubbing Clubbing of fingers and toes, Digital clubbing Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Hernia

Other Classifiers and IDs