Acrofacial dysostosis, Palagonia type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrofacial dysostosis, Palagonia type | |
| fr | Dysostose acrofaciale type Palagonia | |
| de | Dysostose, akrofaziale, Palagonien-Typ | |
| es | Disostosis acrofacial tipo Palagonia | |
| it | Disostosi acrofacciale, tipo Palagonia | |
| nl | Acrofaciale dysostose, Palagonia-type | |
| pt | Disostose acro-facial, tipo Palagonia | |
| pl | Dyzostoza kończynowo-twarzowa typu Palagonia | |
| cs | Akrofaciální dysostóza, palagonský typ | |
| uk | Акрофаціальний дизостоз, тип Палагонія | |
| zh | 面骨发育不全，Palagonia型 | |
| tr | Akrofasiyal dizostoz, Palagonia tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601829 | E | validated | |
| ICD-10 | Q75.4 | NTBT | attributed | validated |
| ICD-11 | LD25.2 | NTBT | index | validated |
| MONDO | 0011154 | E | validated | |
| MeSH | C538185 | E | validated | |
| UMLS | C1866168 | E | validated | |
| GARD | 499 | 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 (3):
- ORPHA:364574Acrofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic 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 | 4 cases | Worldwide | Case(s) | Validated | 9098488[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9098488[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
29 annotations · validated 2018-02-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002750 | Delayed skeletal maturation | |
| HP:0006101 | Finger syndactyly | |
| HP:0000294 | Low anterior hairline | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0000677 | Oligodontia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0010044 | Short 4th metacarpal | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0000653 | Sparse eyelashes | |
| HP:0005338 | Sparse lateral eyebrow | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000337 | Broad forehead | |
| HP:0000414 | Bulbous nose | |
| HP:0000272 | Malar flattening | |
| HP:0000470 | Short neck | |
| HP:0008070 | Sparse hair | |
| HP:0011069 | Supernumerary tooth | |
| HP:0045074 | Thin eyebrow | |
| Occasional (29-5%) | ||
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0004334 | Dermal atrophy | |
| HP:0002705 | High, narrow palate | |
| HP:0003777 | Pili torti | |
| HP:0002650 | Scoliosis | |
| HP:0003298 | Spina bifida occulta | |
| HP:0100333 | Unilateral cleft lip | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1787
- This record as JSON: /data/d/1787.json