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[edit | edit source]
It has been described in two families (with at least seven affected persons).
Cause [edit | edit source]
The cause is not yet known.
Inheritance[edit | edit source]
Inheritance is likely to be autosomal dominant with variable expressivity.
Signs and symptoms[edit | edit source]
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
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Steinfeld syndrome is a rare disease.
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