Autosomal recessive disease. Frequency 1/100,000 - 1/130,000 live births

Synopsis

 systemic anomalies

• short stature
• death in infancy secondary to pulmonary insufficiency
• survivors may develop renal insufficiency and hepatic dysfunction

 retinal degeneration
 pulmonary hypoplasia
 recurrent respiratory infections

 hepatic anomalies

• hepatic fibrosis
• bile duct proliferation
• plycystic liver disease
• jaundice

 pancreatic anomalies

• pancreatic fibrosis
• pancreatic cysts

 renal anomalies

• chronic nephritis
• renal failure
• cystic kidneys

 skeletal anomalies

• long thorax
• narrow thorax
• short ribs
• horizontal ribs
• bulbous ribs
• irregular rib ends
• handlebar clavicles
• lacunar skull
• small pelvis
• hypoplastic iliac wings (infancy)
• rident acetabular roofs
• early ossification of capital femoral epiphyses (infancy)
• sciatic notch spur
• irregular metaphyses (childhood)
• irregular epiphyses (childhood)
• relatively short ulnae (childhood)
• short long bones
• relatively short fibulae (childhood)
• cone-shaped epiphyses (childhood)
• hand and foot polydactyly
• short phalanges
• acromelic shortening

 cutaneous anomalies

• jaundice

 laboratory anomalies

• proteinuria
• direct hyperbilirubinemia