Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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
Achondroplasia-SCID syndrome
Acrocapitofemoral dysplasia
IHH
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
Cherubism
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.

external link
2.

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

external link
3.

OMIM.ORG article

Omim 607778 external link
4.

Orphanet article

Orphanet ID 63446 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits