Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Acromesomelic dysplasia, Demirhan type

Acromesomelic chondrodysplasia with or without genital anomalies is an autosomal recessive disorder caused by mutations of the BMPR1B gene. The disorder is characterized by severe dwarfism, hypomelia, and deformation of both limbs, and various other bone anomalies can be present. Genital malformations are reported in females.

Systematic

Chondrodysplasia, Grebe type
Acromesomelic dysplasia, Demirhan type
BMPR1B
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thompson type
GDF5

References:

1.

Demirhan O et al. (2005) A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.

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2.

Graul-Neumann LM et al. (2014) Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

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3.

Stange K et al. (2015) A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

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4.

OMIM.ORG article

Omim 609441 [^]
Update: April 29, 2019