Campomelia Cumming type

Synonyms

3

Overview

A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.

Symptoms

  • Abnormality of the ribs
  • Bowing of the long bones
  • Brachydactyly syndrome
  • Clubbing of toes
  • Cystic hygroma
  • Dolichocephaly
  • Micromelia
  • Multicystic kidney dysplasia
  • Oligohydramnios
  • Polycystic kidney dysplasia
  • Prematurely aged appearance
  • Skeletal dysplasia
  • Bowed arms
  • Short long bones
  • Short arms
  • Short legs
  • Stillbirth
  • Infant death
  • Premature birth
  • Generalized lymphedema
  • Neck lymphocele
  • Cystic kidneys
  • Cystic liver
  • Cystic pancreas
  • Short gut
  • Polysplenia
  • Abnormal lungs
  • Abnormal rib number
  • Short fingers
  • Short toes
  • Cleft palate
  • Long narrow skull
  • Intestinal atresia
  • Delayed spine calcification
  • Short foot
  • Clubfoot
  • Undescended testes

Resources

  • NIH