Microcephalic Primordial Dwarfism, Montreal Type

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OMIM 56 210700 MESH via Orphanet 44 C535448 ICD10 via Orphanet 33 Q87.1 UMLS via Orphanet 72 C1859468

Orphanet 58 ORPHA2617 MedGen 41 C1859468 SNOMED-CT via HPO 68 111266001 11934000 161857006 16386004 204878001 205455005 228156007 237836003 237837007 246920008 247578003 248315005 254244007 258211005 271611007 274521009 278040002 298000004 312230002 32958008 35580009 364538006 387833009 414564002 415690000 415691001 41581000 422065006 423230008 52613005 56317004 56731001 64217002 80967001 83145004 86854008 91138005 more

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2617 Definition 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Microcephalic Primordial Dwarfism, Montreal Type, also known as bird-headed dwarfism, montreal type, is related to dwarfism. Affiliated tissues include skin, bone and brain, and related phenotypes are intellectual disability and hyperreflexia

More information from OMIM: 210700

Clinical features from OMIM:

210700

Search Clinical Trials , NIH Clinical Center for Microcephalic Primordial Dwarfism, Montreal Type

Search GEO for disease gene expression data for Microcephalic Primordial Dwarfism, Montreal Type.