KEGG DISEASE: Catel-Manzke syndrome

KEGG

DISEASE: Catel-Manzke syndrome

Entry

H01845                      Disease

Name

Catel-Manzke syndrome;
Palatodigital syndrome;
Hyperphalangy syndrome

Description

Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing clinodactyly of the index finger. Pierre Robin sequence is defined by micrognathia, obstruction of the airways due to a backward displacement of the tongue base, and, often but not always, cleft palate. Cardiac abnormalities, facial dysmorphisms, and additional skeletal abnormalities have also been described in a subset of patients with Catel-Manzke syndrome. Recently, homozygous or compound heterozygous pathogenic variants in TGDS have been discovered to cause Catel-Manzke syndrome.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H01845  Catel-Manzke syndrome

Gene

TGDS [HSA:23483] [KO:K01710]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Manzke H, Lehmann K, Klopocki E, Caliebe A

Title

Catel-Manzke syndrome: two new patients and a critical review of the literature.

Journal

Eur J Med Genet 51:452-65 (2008)
DOI:10.1016/j.ejmg.2008.03.005

Reference

Authors

Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmuller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nurnberg P, Siebert R, Manzke H, Mundlos S

Title

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Journal

Am J Hum Genet 95:763-70 (2014)
DOI:10.1016/j.ajhg.2014.11.004

Reference

Authors

Pferdehirt R, Jain M, Blazo MA, Lee B, Burrage LC

Title

Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.

Journal

Mol Genet Metab Rep 4:89-91 (2015)
DOI:10.1016/j.ymgmr.2015.08.003

LinkDB

» Japanese version

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