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Cole-Carpenter syndrome

MONDO:0016085Mondo

Findings

No curated finding names Cole-Carpenter syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

Definition from the Mondo Disease Ontology (MONDO:0016085), read 2026-09-29. CC BY 4.0.

Features

27 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
Abnormality of the voiceHPOHP:0001608
- Very frequent (80% to 99% of cases)
Blue scleraeHPOHP:0000592
- Very frequent (80% to 99% of cases)
Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)

Show the remaining 15

Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
Abnormal dental enamel morphologyHPOHP:0000682
- Frequent (30% to 79% of cases)
Communicating hydrocephalusHPOHP:0001334
- Frequent (30% to 79% of cases)
HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)

Genes

2 genes

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

P4HBHGNC:8548
- Supportive · Orphanet · Autosomal dominant · 2021
SEC24DHGNC:10706
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: multiple congenital anomalies/dysmorphic syndrome without intellectual disability
skeletal dysplasia
syndromic disease
Narrower terms (2): Cole-Carpenter syndrome 1
Cole-Carpenter syndrome 2

Other names

1 name

Resolves to: Cole-Carpenter syndrome

Also called: bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome