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Microform holoprosencephaly

MedGen UID:
1711978
•Concept ID:
C5393309
•
Congenital Abnormality
Synonyms: HoloprosencC)phalie, minor form; Holoprosencephaly minor form; Holoprosencephaly, minor form; Holoprosencephaly-like; holoprosencephaly-like; Holoprosencéphalie, minor form; HPE (holoprosencephaly) minor form; HPE, minor form; HPE-L; microform holoprosencephaly; Microform HPE
SNOMED CT: Holoprosencephaly minor form (1197215004); HPE (holoprosencephaly) minor form (1197215004); Microform holoprosencephaly (1197215004); Holoprosencephaly-like (1197215004)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Non-Mendelian inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017219
Orphanet: ORPHA280200

Definition

A benign form of holoprosencephaly with characteristics of midline defects without the typical holoprosencephaly defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Microform holoprosencephaly

Professional guidelines

PubMed

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Mercier S, Dubourg C, Garcelon N, Campillo-Gimenez B, Gicquel I, Belleguic M, Ratié L, Pasquier L, Loget P, Bendavid C, Jaillard S, Rochard L, Quélin C, Dupé V, David V, Odent S
J Med Genet 2011 Nov;48(11):752-60. Epub 2011 Sep 22 doi: 10.1136/jmedgenet-2011-100339. PMID: 21940735Free PMC Article

Recent clinical studies

Diagnosis

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
Jones GE, Robertson L, Maniyar A, Shammas C, Phelan MM, Vasudevan PC, Tanteles GA
Am J Med Genet A 2016 Mar;170(3):754-9. Epub 2016 Jan 5 doi: 10.1002/ajmg.a.37511. PMID: 26728615

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