Congenital Arthrogryposis with Anterior Horn Cell Disease (CAAHD)

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OMIM® 57 611890 KEGG 36 H01030 MeSH 44 D001176 D016472 UMLS via Orphanet 72 C2678471

Orphanet 58 ORPHA53696 MedGen 41 C2678471 C5193016 SNOMED-CT via HPO 68 111246005 111266001 11934000 128208007 128613002 204878001 205082007 205359003 228158008 246545002 246800008 248409006 249808002 258211005 26432009 271611007 27272007 276506001 278849000 282145008 313307000 32958008 397932003 401138005 409622000 414564002 418143002 48334007 52522001 52781008 57190000 60703000 64217002 74035001 77016009 78164000 8011004 84757009 85672005 88052002 91175000 95427009 95515009 more

OMIM® : ⁵⁷ Congenital arthrogryposis with anterior horn cell disease (CAAHD) is an autosomal recessive neuromuscular disorder with highly variable severity. Affected individuals are usually noted to have contractures in utero on prenatal ultrasound studies, and present at birth with generalized contractures manifest as arthrogryposis multiplex congenita (AMC). Patients have severe hypotonia with respiratory insufficiency, often resulting in death in infancy or early childhood. Some patients may survive into later childhood with supportive care, but may be unable to walk or sit independently due to a combination of muscle weakness and contractures. Cognition may be normal. The disorder also includes multiple congenital anomalies associated with AMC and hypotonia, including high-arched palate, myopathic facies, and bulbar weakness. Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy (summary by Smith et al., 2017 and Tan et al., 2017). (611890) (Updated 05-Mar-2021)

MalaCards based summary : Congenital Arthrogryposis with Anterior Horn Cell Disease, also known as lethal arthrogryposis with anterior horn cell disease, is related to fetal akinesia deformation sequence 1 and anterior horn cell disease. An important gene associated with Congenital Arthrogryposis with Anterior Horn Cell Disease is GLE1 (GLE1 RNA Export Mediator). Affiliated tissues include spinal cord, skeletal muscle and tongue, and related phenotypes are microcephaly and dystonia

KEGG : ³⁶ Congenital arthrogryposis with anterior horn cell disease (CAAHD), formerly known as lethal arthrogryposis with anterior horn cell disease (LAAHD), is a condition with fetal akinesia deformation sequence (FADS), multiple contractures and facial anomalies. Motor neuron loss is also present in patients with CAAHD.

UniProtKB/Swiss-Prot : ⁷³ Congenital arthrogryposis with anterior horn cell disease: An autosomal recessive disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe.

Clinical features from OMIM®:

611890 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Congenital Arthrogryposis with Anterior Horn Cell Disease

Search GEO for disease gene expression data for Congenital Arthrogryposis with Anterior Horn Cell Disease.