Carpenter syndrome 2

Preferred Label : Carpenter syndrome 2;

Symbol : CRPT2;

CISMeF acronym : CRPT2;

Type : Phenotype, molecular basis known;

Description : Carpenter syndrome-2 is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by Twigg et al., 2012). For a discussion of genetic heterogeneity of Carpenter syndrome, see 201000.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the multiple epidermal growth factor-like domains-8 gene (MEGF8, 604267.0001);

Prefixed ID : #614976;

Détails

Origin ID

614976;

UMLS CUI

C3554247;

DO Cross reference
- Carpenter syndrome [DO Concept]
Genes related to phenotype
- Multiple epidermal growth factor-like domains 8 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Aplasia of the middle phalanx of the hand [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Broad thumb [HPO term]
- Camptodactyly [HPO term]
- Coxa vara [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Cutis laxa [HPO term]
- Depressed nasal bridge [HPO term]
- Dextrocardia [HPO term]
- Epicanthus [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic nipples [HPO term]
- Low-set ears [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Narrow naris [HPO term]
- Narrow palate [HPO term]
- Obesity [HPO term]
- Oxycephaly [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Postaxial polydactyly [HPO term]
- Preaxial polydactyly [HPO term]
- Protruding ear [HPO term]
- Retrognathia [HPO term]
- Sensorineural hearing impairment [HPO term]
- Shawl scrotum [HPO term]
- Short neck [HPO term]
- Situs inversus totalis [HPO term]
- Sparse and thin eyebrow [HPO term]
- Supernumerary nipple [HPO term]
- Talipes equinovarus [HPO term]
- Transposition of the great arteries [HPO term]
- Trigonocephaly [HPO term]
- Umbilical hernia [HPO term]
- Upslanted palpebral fissure [HPO term]
- Webbed neck [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Carpenter syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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