Microcephalic osteodysplastic primordial dwarfism, type II

Preferred Label : Microcephalic osteodysplastic primordial dwarfism, type II;

Symbol : MOPD2;

CISMeF acronym : MOPD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteodysplastic primordial dwarfism, type II; Mopd II;

Description : Microcephalic osteodysplastic primordial dwarfism type II is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (see 210600) by more severe growth retardation, radiologic abnormalities, and absent or mild mental retardation (summary by Willems et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pericentrin 2 gene (PCNT2, 605925.0004);

Prefixed ID : #210720;

Details

Origin ID

210720;

UMLS CUI

C0432246;

Automatic exact mappings (from CISMeF team)
- Microcephalic osteodysplastic primordial dwarfism type 2 [ICD-11 More detail]
- Primordial short stature-microdontia-opalescent and rootless teeth syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Microcephalic osteodysplastic primordial dwarfism type II [ORDO Disease]
- Microcephalic osteodysplastic primordial dwarfism type II (disorder) [SNOMED CT concept]
- microcephalic osteodysplastic primordial dwarfism type 2 [Disease (Nov.)]
- microcephalic osteodysplastic primordial dwarfism type II [DO Concept]
- microcephalic osteodysplastic primordial dwarfism, type II [MeSH concept]
- microcephalic osteodysplastic primordial dwarfism, type II [MeSH Supplementary Concept]
DO Cross reference
- microcephalic osteodysplastic primordial dwarfism type II [DO Concept]
Genes related to phenotype
- Pericentrin [OMIM gene]
HPO term(s)
- Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Cafe-au-lait spot [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cone-shaped epiphysis [HPO term]
- Coxa vara [HPO term]
- Delayed skeletal maturation [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Disproportionate short stature [HPO term]
- Distal symphalangism [HPO term]
- Enamel hypoplasia [HPO term]
- Flared metaphysis [HPO term]
- Genu varus [HPO term]
- Global developmental delay [HPO term]
- High pitched voice [HPO term]
- Hypermetropia [HPO term]
- Hypoplastic iliac wing [HPO term]
- Hypoplastic scapulae [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Ivory epiphyses [HPO term]
- Large sella turcica [HPO term]
- Limited elbow extension [HPO term]
- Long clavicles [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Microtia [HPO term]
- Moyamoya phenomenon [HPO term]
- Narrow chest [HPO term]
- Narrow pelvis bone [HPO term]
- Postnatal growth retardation [HPO term]
- Precocious puberty [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent nasal root [HPO term]
- Prominent nose [HPO term]
- Proximal femoral epiphysiolysis [HPO term]
- Pseudoepiphyses of the metacarpals [HPO term]
- Radial bowing [HPO term]
- Retrognathia [HPO term]
- Short 1st metacarpal [HPO term]
- Short distal phalanx of finger [HPO term]
- Short middle phalanx of finger [HPO term]
- Slender long bone [HPO term]
- Sloping forehead [HPO term]
- Sparse scalp hair [HPO term]
- Straight clavicles [HPO term]
- Thin clavicles [HPO term]
- Tibial bowing [HPO term]
- Truncal obesity [HPO term]
- Type II diabetes mellitus [HPO term]
- Ulnar bowing [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Microcephalic osteodysplastic primordial dwarfism type II [ORDO Disease]
- Primordial short stature-microdontia-opalescent and rootless teeth syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephalic osteodysplastic primordial dwarfism type II [ORDO Disease]
- Microcephalic osteodysplastic primordial dwarfism type II (disorder) [SNOMED CT concept]
- Osteodysplastic primordial dwarfism, type 2 (disorder) [SNOMED CT concept]
- microcephalic osteodysplastic primordial dwarfism type 2 [Disease (Nov.)]
- microcephalic osteodysplastic primordial dwarfism type II [DO Concept]
- microcephalic osteodysplastic primordial dwarfism, type II [MeSH Supplementary Concept]
- microcephalic osteodysplastic primordial dwarfism, type II [MeSH concept]

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