Maternal 14q32.2 microdeletion syndrome
disease diseaseOn this page
Also known as maternal del(14)(q32.2)maternal monosomy 14q32.2
Summary
Maternal 14q32.2 microdeletion syndrome (MONDO:0016781) is a disease. A subtype of multiple congenital anomalies due to 14q32.2 maternally expressed gene defect — 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): 38
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 8 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
38 HPO clinical features (Orphanet curated; top 38 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001263 | Global developmental delay | Very frequent (80-99%) |
| HP:0001561 | Polyhydramnios | Very frequent (80-99%) |
| HP:0005257 | Thoracic hypoplasia | Very frequent (80-99%) |
| HP:0006665 | Coat hanger sign of ribs | Very frequent (80-99%) |
| HP:0011968 | Feeding difficulties | Very frequent (80-99%) |
| HP:0000023 | Inguinal hernia | Frequent (30-79%) |
| HP:0001371 | Flexion contracture | Frequent (30-79%) |
| HP:0001382 | Joint hypermobility | Frequent (30-79%) |
| HP:0001537 | Umbilical hernia | Frequent (30-79%) |
| HP:0001540 | Diastasis recti | Frequent (30-79%) |
| HP:0002878 | Respiratory failure | Frequent (30-79%) |
| HP:0006267 | Large placenta | Frequent (30-79%) |
| HP:0008897 | Postnatal growth retardation | Frequent (30-79%) |
| HP:0000126 | Hydronephrosis | Occasional (5-29%) |
| HP:0000158 | Macroglossia | Occasional (5-29%) |
| HP:0000194 | Open mouth | Occasional (5-29%) |
| HP:0000278 | Retrognathia | Occasional (5-29%) |
| HP:0000286 | Epicanthus | Occasional (5-29%) |
| HP:0000337 | Broad forehead | Occasional (5-29%) |
| HP:0000341 | Narrow forehead | Occasional (5-29%) |
| HP:0000463 | Anteverted nares | Occasional (5-29%) |
| HP:0000565 | Esotropia | Occasional (5-29%) |
| HP:0000767 | Pectus excavatum | Occasional (5-29%) |
| HP:0000884 | Prominent sternum | Occasional (5-29%) |
| HP:0000954 | Single transverse palmar crease | Occasional (5-29%) |
| HP:0001239 | Wrist flexion contracture | Occasional (5-29%) |
| HP:0001252 | Hypotonia | Occasional (5-29%) |
| HP:0001539 | Omphalocele | Occasional (5-29%) |
| HP:0001601 | Laryngomalacia | Occasional (5-29%) |
| HP:0001845 | Overlapping toe | Occasional (5-29%) |
| HP:0002263 | Exaggerated cupid’s bow | Occasional (5-29%) |
| HP:0005280 | Depressed nasal bridge | Occasional (5-29%) |
| HP:0005989 | Redundant neck skin | Occasional (5-29%) |
| HP:0010511 | Long toe | Occasional (5-29%) |
| HP:0012385 | Camptodactyly | Occasional (5-29%) |
| HP:0012785 | Flexion contracture of finger | Occasional (5-29%) |
| HP:0045025 | Narrow palpebral fissure | Occasional (5-29%) |
| HP:0001511 | Intrauterine growth retardation | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | maternal 14q32.2 microdeletion syndrome |
| Mondo ID | MONDO:0016781 |
| Orphanet | 254528 |
| UMLS | C5679640 |
| MedGen | 1842712 |
| GARD | 0017221 |
| Is cancer (heuristic) | no |
Also known as: maternal del(14)(q32.2) · maternal monosomy 14q32.2
Disease family
This is a subtype of multiple congenital anomalies due to 14q32.2 maternally expressed gene defect. 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 developmental or physiological process › disorder of development or morphogenesis › developmental defect during embryogenesis › multiple congenital anomalies/dysmorphic syndrome › multiple congenital anomalies/dysmorphic syndrome-intellectual disability › multiple congenital anomalies due to 14q32.2 maternally expressed gene defect › maternal 14q32.2 microdeletion syndrome
Related subtypes (2): paternal uniparental disomy of chromosome 14, maternal 14q32.2 hypermethylation 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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.