Fraser syndrome

Description

Fraser syndrome is a rare syndrome characterised by cryptophthalmos and syndactyly and associated with a wide variety of other anomalies including: middle and outer ear malformations; high-arched palate; cleavage along the midplane of nares and tongue; hypertelorism; laryngeal stenosis; wide separation of symphysis pubis; displacement of umbilicus and nipples; absent or multicystic kidneys; bicornuate uterus, malformed Fallopian tubes, fusion of labia and enlargement of clitoris in girls; and undescended testes and small penis with hypospadias in boys.

Index terms

Fraser syndrome

Exclusions from above levels

http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD2H.1 – Neuropathy with hearing impairment
LD2H.2 – Progressive deafness with stapes fixation
LD2H.3 – Waardenburg-Shah syndrome
LD2H.4 – Usher syndrome
LD2H.Y – Other specified syndromic genetic deafness
LD2H.Z – Syndromic genetic deafness, unspecified

Foundation entity

Fraser syndrome – http://id.who.int/icd/entity/968262849

Part of: LD2H: Syndromic genetic deafness › 20: Developmental anomalies