Acrofacial dysostosis, Catania type
Synonyms: Opitz-Caltabiano syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrofacial dysostosis, Catania type | Opitz-Caltabiano syndrome |
| fr | Dysostose acrofaciale type Catane | Syndrome d'Opitz-Caltabiano |
| de | Dysostose, akrofaziale, Catania-Typ | Opitz-Mollica-Sorge-Syndrom |
| es | Disostosis acrofacial tipo Catania | Síndrome de Opitz-Mollica-Sorge |
| it | Disostosi acrofacciale, tipo Catania | Sindrome di Opitz-Mollica-Sorge |
| nl | Acrofaciale dysostose, Catania-type | Syndroom van Opitz-Caltabiano |
| pt | Disostose acrofacial, tipo Catania | Síndrome Opitz-Mollica-Sorge |
| pl | Dyzostoza kończynowo-twarzowa typu Catania | Zespół Opitza i Caltabiano |
| cs | Akrofaciální dysostóza, katánský typ | Opitzův-Caltabianův syndrom · Opitz-Caltabianův syndrom |
| uk | Акрофаціальний дизостоз, тип Катанія | Синдром Опітца-Кальтабіано |
| zh | 肢端-面骨发育不全，Catania型 | Opitz-Caltabiano综合征 |
| tr | Akrofasiyal disostoz, Katanya tipi | Opitz-Caltabiano sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 101805 | E | validated | |
| ICD-10 | Q75.4 | NTBT | attributed | validated |
| ICD-11 | LD25.2 | NTBT | index | validated |
| MONDO | 0007045 | E | validated | |
| MeSH | C538182 | E | validated | |
| UMLS | C2931762 | E | validated | |
| GARD | 494 | 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 (5):
- 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 - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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 | 2 families | Worldwide | Family(ies) | Validated | 8826434[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8826434[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
35 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001156 | Brachydactyly | |
| HP:0000670 | Carious teeth | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0006101 | Finger syndactyly | |
| HP:0000348 | High forehead | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000252 | Microcephaly | |
| HP:0000308 | Microretrognathia | |
| HP:0003196 | Short nose | |
| HP:0004279 | Short palm | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0000319 | Smooth philtrum | |
| Frequent (79-30%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000028 | Cryptorchidism | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0004467 | Preauricular pit | |
| Occasional (29-5%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002208 | Coarse hair | |
| HP:0002006 | Facial cleft | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0000767 | Pectus excavatum | |
| HP:0001622 | Premature birth | |
| HP:0003298 | Spina bifida occulta | |
| HP:0009804 | Tooth agenesis | |
| HP:0000465 | Webbed neck | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1786
- This record as JSON: /data/d/1786.json