Cantu syndrome

Preferred Label : Cantu syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypertrichotic osteochondrodysplasia;

Description : Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair which extends onto the forehead and to a general increase in body hair. Some features are suggestive of a storage disorder, including macrocephaly and coarse facial features, with a broad nasal bridge, epicanthal folds, wide mouth, and full lips. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability (summary by van Bon et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily C, member 9 gene (ABCC9, 601439.0004);

Prefixed ID : #239850;

Details

Origin ID

239850;

UMLS CUI

C0795905;

Automatic exact mappings (from CISMeF team)
- Hypertrichotic osteochondrodysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Cantu syndrome [MeSH concept]
- Cantu's syndrome (disorder) [SNOMED CT concept]
- Cantú syndrome [ORDO Disease]
- Cranio-facio-cardio-skeletal syndrome [ICD-11 More detail]
- Hypertrichotic osteochondrodysplasia [ICD-11 More detail]
- cantu syndrome [MeSH Supplementary Concept]
- hypertrichotic osteochondrodysplasia Cantu type [DO Concept]
DO Cross reference
- hypertrichotic osteochondrodysplasia Cantu type [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily C, member 9 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Broad first metatarsal [HPO term]
- Broad hallux [HPO term]
- Cardiomegaly [HPO term]
- Coarse facial features [HPO term]
- Congenital hypertrophy of left ventricle [HPO term]
- Congenital, generalized hypertrichosis [HPO term]
- Coxa valga [HPO term]
- Cuboid-shaped vertebral bodies [HPO term]
- Curly eyelashes [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Enlarged posterior fossa [HPO term]
- Epicanthus [HPO term]
- Erlenmeyer flask deformity of the femurs [HPO term]
- Flat, broad nasal bridge [HPO term]
- Full lips [HPO term]
- Gingival overgrowth [HPO term]
- Hypoplastic ischiopubic rami [HPO term]
- Intellectual disability, mild [HPO term]
- Large for gestational age [HPO term]
- Large sella turcica [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Long, curly eyelashes [HPO term]
- Lymphedema [HPO term]
- Macrocephaly [HPO term]
- Metaphyseal widening [HPO term]
- Narrow chest [HPO term]
- Osteoporosis [HPO term]
- Ovoid vertebral bodies [HPO term]
- Patent ductus arteriosus [HPO term]
- Pericardial effusion [HPO term]
- Platyspondyly [HPO term]
- Prominent forehead [HPO term]
- Short hallux [HPO term]
- Short neck [HPO term]
- Short, broad hallux [HPO term]
- Thick lower lip vermilion [HPO term]
- Thick upper lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Cantú syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cantu syndrome [MeSH concept]
- Cantu's syndrome (disorder) [SNOMED CT concept]
- Cantú syndrome [ORDO Disease]
- Hypertrichotic osteochondrodysplasia [ICD-11 More detail]
- cantu syndrome [MeSH Supplementary Concept]

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