Steinfeld syndrome

Other Names: Holoprosencephaly radial heart renal anomalies

Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.

Epidemiology

It has been described in two families (with at least seven affected persons).

Cause

The cause is not yet known.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Inheritance is likely to be autosomal dominant with variable expressivity.

Signs and symptoms

Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.

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

• Aplasia of the nose(Absent nose)
• Atresia of the external auditory canal(Absent ear canal)
• Holoprosencephaly
• Microcephaly(Abnormally small skull)

30%-79% of people have these symptoms Absent gallbladder

• Aplasia/Hypoplasia of the thumb(Absent/small thumb)
• Hypoplasia of the radius(Underdeveloped outer large forearm bone)
• Hypoplasia of the ulna(Underdeveloped inner large forearm bone)
• Microphthalmia(Abnormally small eyeball)
• Vertebral segmentation defect

5%-29% of people have these symptoms

• Abnormal localization of kidney(Abnormal localisation of kidneys)
• Abnormality of neuronal migration
• Abnormality of the humerus
• Cyclopia(Cyclops eye)
• Foot polydactyly(Duplication of bones of the toes)
• Hearing impairment(Deafness)
• Hypotelorism(Abnormally close eyes)
• Iris coloboma(Cat eye)
• Median cleft lip(Central cleft upper lip)
• Missing ribs(Absent ribs)
• Omphalocele
• Overriding aorta
• Phocomelia
• Renal hypoplasia/aplasia(Absent/small kidney)
• Tetralogy of Fallot

NIH genetic and rare disease info

• NIH info on Steinfeld syndrome

Steinfeld syndrome is a rare disease.