Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Acrocapitofemoral dysplasia

Acrocapitofemoral dysplasia is an autosomal recessive disorder caused by IHH mutations. It is characterized by bone dysplasia and short stature.

Systematic

Bone dysplasia
Achondroplasia
Acrocapitofemoral dysplasia
IHH
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
Chondrodysplasia of Blomstrand type
Chondrodysplasia, Grebe type
Crouzon syndrome
Eiken syndrome
Failure of tooth eruption
McCune-Albright syndrom
Metaphyseal chondrodysplasia of Murk Jansen type
Muenke syndrome
Osteofibrous dysplasia
Osteopathia striata with cranial sclerosis
Schimke Immunoosseous dysplasia
Thanatophoric dysplasia 1
Thanatophoric dysplasia 2

References:

1.

Hellemans J et. al. (2003) Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.

[^]
2.

Mortier GR et. al. (2003) Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.

[^]
Update: Sept. 26, 2018