Czeizel-Losonci syndrome

MedGen UID:: 401071
•Concept ID:: C1866739
•: Disease or Syndrome

Synonyms:	Split hand urinary anomalies spina bifida; Split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects
SNOMED CT:	Czeizel Losonci syndrome (732927000); Split hand, urinary anomalies, spina bifida syndrome (732927000); Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (732927000)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0008467
OMIM®:	183802
Orphanet:	ORPHA2437

Definition

An exceedingly rare severe congenital genetic malformation disorder with characteristics of split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia and radial defects. There have been no further descriptions in the literature since 1987. [from SNOMEDCT_US]