Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
diseaseOn this page
Also known as spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardationspondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome
Summary
Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability (MONDO:0011261) is a disease. A subtype of spondyloepiphyseal dysplasia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 41
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 4 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
41 HPO clinical features (Orphanet curated; top 41 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000248 | Brachycephaly | Very frequent (80-99%) |
| HP:0000260 | Wide anterior fontanel | Very frequent (80-99%) |
| HP:0000286 | Epicanthus | Very frequent (80-99%) |
| HP:0000316 | Hypertelorism | Very frequent (80-99%) |
| HP:0000343 | Long philtrum | Very frequent (80-99%) |
| HP:0000463 | Anteverted nares | Very frequent (80-99%) |
| HP:0000470 | Short neck | Very frequent (80-99%) |
| HP:0000518 | Cataract | Very frequent (80-99%) |
| HP:0000637 | Long palpebral fissure | Very frequent (80-99%) |
| HP:0000774 | Narrow chest | Very frequent (80-99%) |
| HP:0000926 | Platyspondyly | Very frequent (80-99%) |
| HP:0001238 | Slender finger | Very frequent (80-99%) |
| HP:0001263 | Global developmental delay | Very frequent (80-99%) |
| HP:0002673 | Coxa valga | Very frequent (80-99%) |
| HP:0002693 | Abnormality of the skull base | Very frequent (80-99%) |
| HP:0002714 | Downturned corners of mouth | Very frequent (80-99%) |
| HP:0002942 | Thoracic kyphosis | Very frequent (80-99%) |
| HP:0003071 | Flattened epiphysis | Very frequent (80-99%) |
| HP:0003180 | Flat acetabular roof | Very frequent (80-99%) |
| HP:0003196 | Short nose | Very frequent (80-99%) |
| HP:0003300 | Ovoid vertebral bodies | Very frequent (80-99%) |
| HP:0003366 | Abnormality of the femoral neck or head region | Very frequent (80-99%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (80-99%) |
| HP:0006454 | Delayed patellar ossification | Very frequent (80-99%) |
| HP:0008783 | Wide proximal femoral metaphysis | Very frequent (80-99%) |
| HP:0011001 | Increased bone mineral density | Very frequent (80-99%) |
| HP:0011326 | Anterior plagiocephaly | Very frequent (80-99%) |
| HP:0011849 | Abnormal bone ossification | Very frequent (80-99%) |
| HP:0000347 | Micrognathia | Frequent (30-79%) |
| HP:0002007 | Frontal bossing | Frequent (30-79%) |
| HP:0007894 | Hypopigmentation of the fundus | Frequent (30-79%) |
| HP:0011329 | Abnormality of cranial sutures | Frequent (30-79%) |
| HP:0100558 | Hemiatrophy of upper limb | Frequent (30-79%) |
| HP:0000175 | Cleft palate | Occasional (5-29%) |
| HP:0000218 | High palate | Occasional (5-29%) |
| HP:0000541 | Retinal detachment | Occasional (5-29%) |
| HP:0000545 | Myopia | Occasional (5-29%) |
| HP:0000568 | Microphthalmia | Occasional (5-29%) |
| HP:0002879 | Anisospondyly | Occasional (5-29%) |
| HP:0009811 | Abnormality of the elbow | Occasional (5-29%) |
| HP:0010471 | Oligosacchariduria | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability |
| Mondo ID | MONDO:0011261 |
| MeSH | C566515 |
| OMIM | 602611 |
| Orphanet | 163649 |
| DOID | DOID:0112294 |
| SNOMED CT | 718766002 |
| UMLS | C1865134 |
| MedGen | 355919 |
| GARD | 0016993 |
| Is cancer (heuristic) | no |
Also known as: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation · spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome
Disease family
This is a subtype of spondyloepiphyseal dysplasia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone development disease › osteochondrodysplasia › spondyloepiphyseal dysplasia › spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
Related subtypes (43): hip dysplasia, Beukes type, spondyloepiphyseal dysplasia with congenital joint dislocations, Marshall syndrome, metatropic dysplasia, spondyloepiphyseal dysplasia with punctate corneal dystrophy, spondyloepiphyseal dysplasia, MacDermot type, progressive pseudorheumatoid arthropathy of childhood, otospondylomegaepiphyseal dysplasia, Dyggve-Melchior-Clausen disease, dyssegmental dysplasia, Rolland-Desbuquois type, Silverman-Handmaker type dyssegmental dysplasia, Wolcott-Rallison syndrome, Schimke immuno-osseous dysplasia, Richieri Costa-da Silva syndrome, Schwartz-Jampel syndrome, X-linked spondyloepimetaphyseal dysplasia, CODAS syndrome, spondyloepiphyseal dysplasia, Reardon type, brachyolmia-amelogenesis imperfecta syndrome, anauxetic dysplasia, spondyloepiphyseal dysplasia, Kimberley type, spondyloepiphyseal dysplasia, Cantu type, Ehlers-Danlos syndrome, spondylocheirodysplastic type, spondylo-megaepiphyseal-metaphyseal dysplasia, brachydactylous dwarfism, Mseleni type, TMEM165-congenital disorder of glycosylation, Steel syndrome, cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Roifman syndrome, progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome, even-plus syndrome, Smith-McCort dysplasia, cono-spondylar dysplasia, X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome, Stickler syndrome, spondyloepiphyseal dysplasia tarda, spondyloepiphyseal dysplasia, kondo-fu type, spondyloepiphyseal dysplasia, nishimura type, immunoskeletal dysplasia with neurodevelopmental abnormalities, COL2A1-related spondyloepiphyseal dysplasia, MIR140-related spondyloepiphyseal dysplasia, MGP-related spondyloepiphyseal dysplasia, spondyloepiphyseal dysplasia, Holling type
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.