Nephrosis-deafness-urinary tract-digital malformations syndrome

MedGen UID:: 340568
•Concept ID:: C1850552
•: Disease or Syndrome

Synonyms:	Nephrosis deafness urinary tract digital malformation; Nephrosis with deafness and urinary tract and digital malformations
Modes of inheritance:	Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Unknown inheritance (Orphanet)

Monarch Initiative:	MONDO:0009731
OMIM®:	256200
Orphanet:	ORPHA2669

Definition

A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962. [from ORDO]

Clinical features

From HPO

Nephrotic syndrome

MedGen UID:: 10308
•Concept ID:: C0027726
•: Disease or Syndrome

Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.

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Bifid distal phalanx of the thumb

MedGen UID:: 348557
•Concept ID:: C1860162
•: Congenital Abnormality

Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.

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Short distal phalanx of the thumb