Acropectorovertebral dysplasia

Summary

Acropectorovertebral dysplasia (MONDO:0007058) is a disease. A subtype of thoracic malformation — 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): 12

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		30	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

12 HPO clinical features (Orphanet curated; top 12 by frequency):

HPO ID	Term	Frequency
HP:0000767	Pectus excavatum	Very frequent (80-99%)
HP:0001199	Triphalangeal thumb	Very frequent (80-99%)
HP:0005048	Synostosis of carpal bones	Very frequent (80-99%)
HP:0006101	Finger syndactyly	Very frequent (80-99%)
HP:0008368	Tarsal synostosis	Very frequent (80-99%)
HP:0009882	Short distal phalanx of finger	Very frequent (80-99%)
HP:0011304	Broad thumb	Very frequent (80-99%)
HP:0001256	Intellectual disability, mild	Frequent (30-79%)
HP:0002414	Spina bifida	Frequent (30-79%)
HP:0000175	Cleft palate	Occasional (5-29%)
HP:0002705	High, narrow palate	Occasional (5-29%)
HP:0100490	Camptodactyly of finger	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Acropectorovertebral dysplasia
Mondo ID	MONDO:0007058
MeSH	C566319
OMIM	102510
Orphanet	957
ICD-11	1013313909
SNOMED CT	720457000
UMLS	C1863307
MedGen	400262
GARD	0000512
Is cancer (heuristic)	no

Also known as: Acropectorovertebral dysplasia · Acropectorovertebral dysplasia F form · ACRPV · F syndrome

Disease family

This is a subtype of thoracic malformation. 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 › respiratory system disorder › respiratory or thoracic malformation › thoracic malformation › Acropectorovertebral dysplasia

Related subtypes (14): congenitally short costocoracoid ligament, Sprengel deformity, thoracolaryngopelvic dysplasia, fetal akinesia deformation sequence, lethal congenital contracture syndrome 1, orofaciodigital syndrome IV, thoracic dysplasia-hydrocephalus syndrome, thoracomelic dysplasia, Matthew-Wood syndrome, NEK9-related lethal skeletal dysplasia, short rib-polydactyly syndrome, shoulder and thorax deformity-congenital heart disease syndrome, sternal cleft, ossification anomalies-psychomotor developmental delay syndrome

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.