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short stature-craniofacial anomalies-genital hypoplasia syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008335

Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p. [ Orphanet:2994 ]

Term info

database cross reference
  • Orphanet:2994 (OMIM:177980)
  • MESH:C535844 (MONDO:equivalentTo)
  • GARD:0002605 (MONDO:equivalentTo)
  • SCTID:716090004 (MONDO:equivalentTo)
  • UMLS:C1867443 (Orphanet:2994/e)
  • OMIM:177980 (Orphanet:2994/e)
Subsets

ordo_malformation_syndrome

A synonym that is historic and discouraged
pterygia, mental retardation, and distinctive craniofacial features [ OMIM:177980 ]

A synonym that is historic and discouraged
pterygia, mental retardation and distinctive craniofacial features [ GARD:0002605 ]

A synonym that is historic and discouraged
pterygia mental retardation facial dysmorphism [ GARD:0002605 ]

definition

Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.

exactMatch

http://identifiers.org/mesh/C535844, http://purl.obolibrary.org/obo/Orphanet_2994, http://identifiers.org/snomedct/716090004, https://omim.org/entry/177980, http://linkedlifedata.com/resource/umls/id/C1867443

has exact synonym

Haspeslagh-Fryns-Muelenaere syndrome

has related synonym

Haspeslagh syndrome, pterygia, mental retardation and distinctive craniofacial features, pterygia, intellectual disability, and distinctive craniofacial features, pterygia mental retardation facial dysmorphism, pterygia, mental retardation, and distinctive craniofacial features, pterygia intellectual disability facial dysmorphism, pterygia, intellectual disability and distinctive craniofacial features

id

MONDO:0008335