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GTR Home > Conditions/Phenotypes > 4p partial monosomy syndrome

4p partial monosomy syndrome

Synonyms
CHROMOSOME 4p16.3 DELETION SYNDROME; Chromosome 4p syndrome; Mental retardation, unusual facies, and intrauterine growth retardation; Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation; Pitt syndrome; Prenatal and postnatal growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and absence of speech; Wittwer syndrome; Wolf syndrome; Wolf-Hirschhorn Syndrome
Modes of inheritance
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008). [from OMIM]

Available tests

47 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (47 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPX-I, CPX1, DEE63, EIEE63, CPLX1
    Summary: complexin 1

  • Also known as: BARS, HADDTS, CTBP1
    Summary: C-terminal binding protein 1

  • Also known as: FGFR-5, FGFR5, FHFR, FGFRL1
    Summary: fibroblast growth factor receptor like 1

  • Also known as: CONDMIM, KHE, Mdm38, SLC55A1, LETM1
    Summary: leucine zipper and EF-hand containing transmembrane protein 1

  • Also known as: KMT3F, KMT3G, MMSET, RAUST, REIIBP, TRX5, WHS, WHSC1, NSD2
    Summary: nuclear receptor binding SET domain protein 2

  • Also known as: PRDS, WHCR
    Summary: Wolf-Hirschhorn syndrome

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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