Preferred Label : Wieacker-wolff syndrome;
Symbol : WRWF;
CISMeF acronym : MCS; MRXS4; WRWF;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Mental retardation, X-linked, with congenital contractures and low fingertip arches; MRXS4; Contractures of feet, muscle atrophy, and oculomotor apraxia; Miles-carpenter X-linked mental retardation syndrome; Mental retardation, X-linked, syndromic 4; MCS; Wieacker syndrome; Apraxia, oculomotor, with congenital contractures and muscle atrophy;
Description : Wieacker-Wolff syndrome is a severe X-linked recessive neurodevelopmental disorder
affecting the central and peripheral nervous systems. It is characterized by onset
of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures,
known as arthrogryposis, and have delayed motor development, facial and bulbar weakness,
characteristic dysmorphic facial features, and skeletal abnormalities, such as hip
dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental
retardation. Carrier females may have mild features of the disorder (summary by Hirata
et al., 2013).;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the zinc finger C4H2 domain-containing protein gene (ZC4H2,
300897.0001);
Prefixed ID : #314580;
Origin ID : 314580;
UMLS CUI : C0796200;
Automatic exact mappings (from CISMeF team)
CISMeF manual mappings
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)