Metaphyseal anadysplasia 2(MANDP2)

MedGen UID:: 414350
•Concept ID:: C2751322
•: Disease or Syndrome

Synonyms:	MANDP2; Metaphyseal anadysplasia 2, autosomal recessive

Gene (location): Gene(s) directly associated with this condition or phenotype.	MMP9 (20q13.12)

Monarch Initiative:	MONDO:0013113
OMIM®:	613073

Definition

Metaphyseal anadysplasia-2 (MANDP2) is a very rare skeletal dysplasia with onset in the second or third year of life of mild rhizomelic micromelia and varus deformity of lower extremities. The disorder appears to resolve without intervention during adolescence (summary by Bonilla-Fornes et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of metaphyseal anadysplasia, see MANDP1 (602111). [from OMIM]

Clinical features

From HPO

Micromelia

MedGen UID:: 10031
•Concept ID:: C0025995
•: Congenital Abnormality

The presence of abnormally small extremities.

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Genu varum

MedGen UID:: 154257
•Concept ID:: C0544755
•: Finding

A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.

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Short femoral neck