Froster-Huch syndrome

Other Names: Diaphragmatic defect limb deficiency skull defect

Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.

Epidemiology

It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple.

Signs and symptoms

The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case).

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormality of femur morphology(Abnormality of the thighbone)
• Abnormality of the scapula(Abnormality of the shoulder blade)
• Aplasia/Hypoplasia of the fibula(Absent/small calf bone)
• Aplasia/hypoplasia of the humerus(Absent/small long bone in upper arm)
• Aplasia/Hypoplasia of the radius
• Aplasia/Hypoplasia of the ulna
• Absence/underdevelopment of inner forearm bone
• Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
• Congenital diaphragmatic hernia
• Decreased skull ossification(Decreased bone formation of skull)
• Finger syndactyly
• Omphalocele
• Pulmonary hypoplasia(Small lung)
• Upper limb asymmetry(Unequal size of arms)

5%-29% of people have these symptoms

• Abnormal morphology of female internal genitalia

Diagnosis

Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies.

NIH genetic and rare disease info

• NIH info on Froster-Huch syndrome

Froster-Huch syndrome is a rare disease.