Catel-Manzke Syndrome (CATMANS)

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OMIM® 57 616145 KEGG 36 H01845 MeSH 44 D006228 D010855 MESH via Orphanet 45 C535347 ICD10 via Orphanet 33 Q87.8

UMLS via Orphanet 71 C1844887 Orphanet 58 ORPHA1388 MedGen 41 C1844887 SNOMED-CT via HPO 68 108367008 111266001 128613002 194021007 199612005 202281000 204878001 205101001 21186006 22006008 22033007 224958001 237836003 246545002 248409006 249808002 253255002 253366007 253549006 258211005 27272007 27637000 27911000 29271008 298203008 30288003 313307000 32958008 3639002 36440009 391987005 396232000 396347007 397932003 399882002 40225001 405752007 423984004 432788009 63567004 63934006 64217002 70142008 7305005 80281008 84445001 84757009 87642003 87979003 91175000 95427009 95515009 more UMLS 70 C1844887

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1388 Definition Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis. Epidemiology Catel-Manzke syndrome has been described in more than 33 patients. Clinical description The key feature of Catel-Manzke syndrome is a bilateral hyperphalangy of the index finger in which there is an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence which combines micrognathia, glossoptosis and cleft palate. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication (see these terms). Less frequent findings include iris coloboma, mild facial dysmorphism (hypertelorism, short palpebral fissures, full cheeks, low-set or posteriorly rotated ears), pectus excavatum, pectus carinatum, scoliosis, bilateral brachydactyly, bilateral fifth finger clinodactyly, knee dislocation, talipes, short halluces, failure to thrive and an intellectual disability, ranging from mild to severe. Etiology Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in Catel-Manzke syndrome. Diagnostic methods The disease is diagnosed at birth due to the manifestions linked with Pierre Robin sequence and the abnormal index finger. Radiological findings confirm digital abnormalities including a supernumerary deltoid or trapezoid bone located ulnarwards between the slightly shortened second metacarpal and the significantly shortened corresponding proximal phalanx. On its ulnar side, or more unusually on its radial side, the accessory bone has a pin-shaped bone, possibly an epiphysis causing a broadening of the index finger at the level of the metacarpophalangeal joint. The supernumerary bone fuses with the first phalanx in later life which may cause subluxation at the metacarpo-phalangeal joint. Differential diagnosis Differential diagnoses related to the bone abnormalities may include Desbuquois syndrome, Temtamy preaxial brachydactyly syndrome and brachydactyly type C (see these terms). Genetic counseling Transmission is autosomal recessive. Genetic counseling is recommended. Management and treatment Treatment for airway distress and/or feeding complications involves prone positioning for breathing and/or feeding and is effective for most neonates. The cleft palate is usually corrected by surgical intervention before the age of nine months. Long-term orthodontic care is required. However, follow-up by a multidisciplinary team ( pediatrician, craniofacial surgeon, cardiologist, ear, nose and throat specialist and speech therapist ) is recommended. The infant continues to need feeding and speech assessments and breathing capacity needs to be monitored. Prognosis Prognosis is good with appropriate early treatment and successful management of clinical manifestations during the first year of life.

MalaCards based summary : Catel-Manzke Syndrome, also known as hyperphalangy-clinodactyly of index finger with pierre robin syndrome, is related to hyperphalangy and pierre robin syndrome, and has symptoms including seizures An important gene associated with Catel-Manzke Syndrome is TGDS (TDP-Glucose 4,6-Dehydratase). Affiliated tissues include bone, tongue and heart, and related phenotypes are failure to thrive and cleft palate

OMIM® : ⁵⁷ Catel-Manzke syndrome is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger (summary by Manzke et al., 2008). (616145) (Updated 20-May-2021)

KEGG : ³⁶ 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.

UniProtKB/Swiss-Prot : ⁷² Catel-Manzke syndrome: A syndrome characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia).

Wikipedia : ⁷³ Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index... more...

Clinical features from OMIM®:

616145 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Catel-Manzke Syndrome

Search GEO for disease gene expression data for Catel-Manzke Syndrome.