JSON

bird headed-dwarfism, Montreal type

^ http://purl.obolibrary.org/obo/MONDO_0008870

Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. [ Orphanet:2617 ]

Term info

database cross reference
  • UMLS:C1859468 (Orphanet:2617/e)
  • GARD:0000895 (MONDO:equivalentTo)
  • Orphanet:2617 (OMIM:210700)
  • MESH:C535448 (Orphanet:2617/e)
  • OMIM:210700 (Orphanet:2617/e)
Subsets

ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.

exactMatch

http://identifiers.org/mesh/C535448, https://omim.org/entry/210700, http://linkedlifedata.com/resource/umls/id/C1859468, http://purl.obolibrary.org/obo/Orphanet_2617

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has related synonym

microcephalic primordial dwarfism, Montreal type, Bird-headed dwarfism, Montreal type, premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms, Bird-headed dwarfism with features of premature senility

id

MONDO:0008870

Term relations