Short-rib thoracic dysplasia 6 with or without polydactyly

Preferred Label : Short-rib thoracic dysplasia 6 with or without polydactyly;

Symbol : SRTD6;

CISMeF acronym : SRPS2A; SRTD6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Srps, type II; Polydactyly with neonatal chondrodystrophy, type II; Majewski syndrome; Short rib-polydactyly syndrome, type iia; Short rib-polydactyly syndrome, type II; SRPS2A;

Description : The diagnostic criteria for short rib-polydactyly type II (Majewski syndrome) include short and narrow thorax, horizontally oriented ribs, short tubular bones with smooth ends, ovoid tibiae that are shorter than the fibulae or tibial agenesis, and pre- and/or postaxial polysyndactyly (summary by El Hokayem et al., 2012). The short rib-polydactyly syndromes (SRPSs) are a group of autosomal recessive lethal skeletal dysplasias characterized by markedly short ribs, short limbs, polydactyly, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas. Five types have been distinguished: SRPS I (Saldino-Noonan type; 263530), SRPS II (Majewski type), SRPS III (Verma-Naumoff type; 263510),;

Inheritance : Autosomal recessive; Digenic recessive;

Molecular basis : Caused by mutation in the never in mitosis gene A-related kinase 1 gene (NEK1, 604588.0001); Caused by simultaneous heterozygous mutation in both the never in mitosis gene A-related kinase 1 gene (NEK1, 604588.0003) and the dynein, cytoplasmic-2, heavy chain-1 gene (DYN2CH1, 603297.0016);

Prefixed ID : #263520;

Details

Origin ID

263520;

UMLS CUI

C0024507;

Currated CISMeF NLP mapping
- Majewski syndrome [PASCAL descriptor]
- Short rib-polydactyly syndrome, Majewski type [ORDO Disease]
- Short rib-polydactyly syndrome, Majewski type [ICD-11 More detail]
- Short rib-polydactyly syndrome, Majewski type (disorder) [SNOMED CT concept]
- Short-Rib Thoracic Dysplasia 6 with or without Polydactyly [NCIt concept]
- majewski syndrome [MeSH concept]
- short rib-polydactyly syndrome, majewski type [SNOMED Notion]
- short-rib thoracic dysplasia 6 with or without polydactyly [DO Concept]
DO Cross reference
- short-rib thoracic dysplasia 6 with or without polydactyly [DO Concept]
Genes related to phenotype
- Nima-related kinase 1 [OMIM gene]
HPO term(s)
- Abnormality of the larynx [HPO term]
- Ambiguous genitalia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cleft palate [HPO term]
- Delayed speech and language development [HPO term]
- Digenic inheritance [HPO term]
- Dilation of lateral ventricles [HPO term]
- Disproportionate shortening of the tibia [HPO term]
- Genitourinary atresia [HPO term]
- Hamartoma of tongue [HPO term]
- Hepatic fibrosis [HPO term]
- Horizontal ribs [HPO term]
- Hydrops fetalis [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the epiglottis [HPO term]
- Intestinal malrotation [HPO term]
- Lateral clavicle hook [HPO term]
- Lethal dwarfism identifiable at birth [HPO term]
- Median cleft lip [HPO term]
- Mesomelia [HPO term]
- Microglossia [HPO term]
- Micropenis [HPO term]
- Motor delay [HPO term]
- Narrow chest [HPO term]
- Pachygyria [HPO term]
- Pancreatic fibrosis [HPO term]
- Pectus carinatum [HPO term]
- Platyspondyly [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Polysyndactyly of hallux [HPO term]
- Postaxial hand polydactyly [HPO term]
- Postaxial polysyndactyly of foot [HPO term]
- Preaxial hand polydactyly [HPO term]
- Pulmonary hypoplasia [HPO term]
- Retinal dystrophy [HPO term]
- Short long bone [HPO term]
- Short ribs [HPO term]
- Thoracic dysplasia [HPO term]
- Tricuspid regurgitation [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Short rib-polydactyly syndrome, Majewski type [ORDO Disease]
See also inter- (CISMeF)
- NEK1 wt Allele [NCIt concept]
- short rib-polydactyly syndrome, non-majewski type [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Majewski syndrome [PASCAL descriptor]
- Short rib-polydactyly syndrome, Majewski type [ORDO Disease]
- Short rib-polydactyly syndrome, Majewski type [ICD-11 More detail]
- Short rib-polydactyly syndrome, Majewski type (disorder) [SNOMED CT concept]
- Short-Rib Thoracic Dysplasia 6 with or without Polydactyly [NCIt concept]
- majewski syndrome [MeSH concept]
- short rib-polydactyly syndrome, majewski type [SNOMED Notion]
- short-rib thoracic dysplasia 6 with or without polydactyly [DO Concept]
Validated automatic mappings to NTBT
- short rib-polydactyly syndrome [MeSH Descriptor]

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