Preferred Label : Nephrosis with deafness and urinary tract and digital malformations;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Braun and Bayer (1962) described a sibship of 12 containing 5 affected brothers. Two
brothers, 5 sisters and both parents were normal. Parental consanguinity was denied.
Whereas 2 of the affected sibs had urinary tract and digital anomalies, bifid uvula,
nephrosis and deafness, 1 brother was deaf and had digital anomalies only, and 2 brothers
had nephrosis only. The digital anomaly consisted of short and bifid distal phalanges
of thumbs and big toes, for which no photographs or roentgenograms were published.
Deafness was conductive, with no malformations of the middle ear bone (one of the
affected sibs was autopsied). A female relative was known to be deaf. The author suggested
either autosomal recessive or X-linked dominant inheritance (the mother had renal
complications and hypertension during her pregnancies) of this syndrome, which was
not previously described in the literature. *FIELD* RF 1. Braun, F. C., Jr.; Bayer,
J. F.: Familial nephrosis associated with deafness and congenital urinary tract anomalies
in siblings. J. Pediat. 60: 33-41, 1962. *FIELD* CS Limbs: Digital malformations;
Short bifid distal phalanges of thumbs and big toes Ears: Hearing loss GU: Nephrosis;
Urinary tract anomalies;
Inheritance : Autosomal recessive vs. X-linked dominant;
Prefixed ID : 256200;
Origin ID : 256200;
UMLS CUI : C1850552;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
