Carpenter syndrome 1

Preferred Label : Carpenter syndrome 1;

Symbol : CRPT1;

CISMeF acronym : CRPT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acrocephalopolysyndactyly type II; Carpenter syndrome; Acps II;

Description : Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011). - Genetic Heterogeneity of Carpenter Syndrome Carpenter syndrome-2 (CRPT2; 614976), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (604267).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Ras-associated protein RAB23 gene (RAB23, 606144.0001);

Prefixed ID : #201000;

Details

Origin ID

201000;

UMLS CUI

C4551510;

Automatic exact mappings (from CISMeF team)
- Polyglandular autoimmune syndrome, type 2 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acrocephalopolysyndactyly type II (disorder) [SNOMED CT concept]
- Carpenter syndrome [DO Concept]
- Carpenter syndrome [ICD-11 More detail]
- Carpenter syndrome [MedDRA Preferred Term]
- Carpenter syndrome [ORDO Disease]
- Carpenter's syndrome (disorder) [Inactive SNOMED CT concept]
- acrocephalopolysyndactyly type II [MeSH Supplementary Concept]
- acrocephalopolysyndactyly type II [MeSH concept]
DO Cross reference
- Carpenter syndrome [DO Concept]
False automatic mappings
- autoimmune polyglandular syndrome type II [Disease (Nov.)]
Genes related to phenotype
- Ras-associated protein rab23 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Agenesis of permanent teeth [HPO term]
- Aplasia/Hypoplasia of the corpus callosum [HPO term]
- Aplasia/Hypoplasia of the middle phalanges of the hand [HPO term]
- Aplasia/Hypoplasia of the middle phalanges of the toes [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Camptodactyly [HPO term]
- Cerebral atrophy [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Complete duplication of proximal phalanx of the thumb [HPO term]
- Conductive hearing impairment [HPO term]
- Corneal opacity [HPO term]
- Coronal craniosynostosis [HPO term]
- Coxa valga [HPO term]
- Craniosynostosis (coronal, sagittal, lambdoid sutures) [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Deviation of finger [HPO term]
- Duplication of the proximal phalanx of the hallux [HPO term]
- Epicanthus [HPO term]
- External genital hypoplasia [HPO term]
- Flared iliac wing [HPO term]
- Flattened nasal bridge [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the hand [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Large foramen magnum [HPO term]
- Lateral displacement of patellae [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Metatarsus adductus [HPO term]
- Microcornea [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Obesity [HPO term]
- Omphalocele [HPO term]
- Opacification of the corneal stroma [HPO term]
- Optic atrophy [HPO term]
- Patent ductus arteriosus [HPO term]
- Persistence of primary teeth [HPO term]
- Polysplenia [HPO term]
- Postaxial hand polydactyly [HPO term]
- Preauricular pit [HPO term]
- Preaxial foot polydactyly [HPO term]
- Precocious puberty [HPO term]
- Pseudoepiphyses of the proximal phalanges of the hand [HPO term]
- Pulmonic stenosis [HPO term]
- Sacral dimple [HPO term]
- Sagittal craniosynostosis [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Shallow acetabular fossae [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Spina bifida occulta [HPO term]
- Telecanthus [HPO term]
- Tetralogy of Fallot [HPO term]
- Toe syndactyly [HPO term]
- Transposition of the great arteries [HPO term]
- Umbilical hernia [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
- Ventricular septal defect [HPO term]
- genu valgum or genu varum [HPO term]
ORDO concept(s)
- Carpenter syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocephalopolysyndactyly type II (disorder) [SNOMED CT concept]
- Carpenter syndrome [ORDO Disease]
- Carpenter syndrome [DO Concept]
- Carpenter's syndrome (disorder) [Inactive SNOMED CT concept]
- Type II Acrocephalopolysyndactyly [NCIt concept]
- acrocephalopolysyndactyly type II [MeSH concept]
- acrocephalopolysyndactyly type II [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Type II Acrocephalopolysyndactyly [NCIt concept]

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