Acrocephalopolydactyly
Synonyms: Acrocephalopolydactylous dysplasia · Elejalde acrocephalopolydactyly
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrocephalopolydactyly | Acrocephalopolydactylous dysplasia · Elejalde acrocephalopolydactyly |
| fr | Acro-céphalo-polydactylie | Acro-céphalo-polydactylie d'Elejalde · Dysplasie acro-céphalo-polydactylique |
| de | Akrozephalopolydaktylie | Akrozephalopolydaktyle Dysplasie · Elejalde-Syndrom |
| es | Acrocefalopolidactilia | Acrocefalopolidactilia de Elejalde · Displasia acrocefalodactílica · Displasia acrocefalopolidactílica |
| it | Acrocefalopolidattilia | Acrocefalopolidattilia di Elejalde · Displasia acrocefalopolidattilica |
| nl | Acrocefalopolydactylie | Acrocefalopolydactyleuze dysplasie · Acrocefalopolydactylie van Elejalde |
| pt | Acrocefalopolidactilia | Acrocefalopolidactilia Elejalde · Displasia acrocefalopolidactilosa |
| pl | Akrocefalopolidaktylia | Zespół Elejalde |
| cs | Akrocefalopolydaktylie | Akrocefalopolydaktylní dysplázie · Elejaldeův syndrom |
| uk | Акроцефалополідактилія | Акроцефалополідактилічна дисплазія · Акроцефалополідактилія Еледжальда |
| zh | 尖头多指（趾）畸形 | 尖头多指（趾）畸形 |
| tr | Akrosefalopolidaktili | Elejalde sendromu · Akrosefalopolidaktilöz displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200995 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0008709 | E | validated | |
| MeSH | C573722 | E | validated | |
| UMLS | C3495588 | E | validated | |
| GARD | 2096 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 22413886[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22413886[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
19 annotations · validated 2017-01-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012210 | Abnormal renal morphology | |
| HP:0000234 | Abnormality of the head | |
| HP:0000153 | Abnormality of the mouth | |
| HP:0001156 | Brachydactyly | |
| HP:0000476 | Cystic hygroma | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000286 | Epicanthus | |
| HP:0002816 | Genu recurvatum | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000316 | Hypertelorism | |
| HP:0009826 | Limb undergrowth | |
| HP:0008551 | Microtia | |
| HP:0000263 | Oxycephaly | |
| HP:0005458 | Premature closure of fontanelles | |
| HP:0001538 | Protuberant abdomen | |
| HP:0003026 | Short long bone | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0005257 | Thoracic hypoplasia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 16969863[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/221054
- This record as JSON: /data/d/221054.json