JSON

microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

^ http://purl.obolibrary.org/obo/MONDO_0013053

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. [ Orphanet:217026 ]

Term info

database cross reference
  • SCTID:719395001 (MONDO:equivalentTo)
  • MESH:C567850 (MONDO:equivalentTo)
  • OMIM:612946 (Orphanet:217026/e)
  • UMLS:C2751878 (Orphanet:217026)
  • Orphanet:217026 (OMIM:612946)
Subsets

ordo_malformation_syndrome

definition

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.

exactMatch

http://identifiers.org/mesh/C567850, http://linkedlifedata.com/resource/umls/id/C2751878, http://purl.obolibrary.org/obo/Orphanet_217026, http://identifiers.org/snomedct/719395001, https://omim.org/entry/612946

has exact synonym

Hadziselimovic syndrome, microcephaly-faciocardioskeletal syndrome

id

MONDO:0013053