Phocomelia, Schinzel type
Synonyms: Al Awadi-Raas-Rothschild syndrome · Aplasia/hypoplasia of limbs and pelvis · Congenital absence of ulna and fibula · Severe limb deficit
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Phocomelia, Schinzel type | Al Awadi-Raas-Rothschild syndrome · Aplasia/hypoplasia of limbs and pelvis · Congenital absence of ulna and fibula · Severe limb deficit |
| fr | Phocomélie type Schinzel | Absence congénitale de cubitus et de péroné · Aplasie/hypoplasie des membres et du pelvis · Déficit sévère des membres · Syndrome d'Al Awadi-Raas-Rothschild |
| de | Phokomelie Typ Schinzel | Al-Awadi/Raas-Rothschild-Syndrom · Apoplasie/Hypoplasie von Gliedmaßen und Becken · Kongenitales Fehlen von Ulna und Fibula · Schwerer Gliedmaßendefekt |
| es | Focomelia tipo Schinzel | Aplasia/hipoplasia de extremidades y pelvis · Ausencia congénita de cúbito y peroné · Deficiencia grave de las extremidades · Síndrome de Al-Awadi-Raas-Rothschild |
| it | Focomelia, tipo Schinzel | Aplasia/ipoplasia degli arti e del bacino · Assenza congenita dell'ulna e del perone · Deficit grave degli arti · Sindrome di Al Awadi-Raas-Rothschild |
| nl | Focomelie, Schinzel-type | Aplasie/hypoplasie van ledematen en bekken · Congenitale afwezigheid van ulna en fibula · Ernstig ledemaatdefect · Syndroom van Al Awadi-Raas-Rothschild |
| pt | Focomelia, tipo Schinzel | Aplasia/hipoplasia dos membros e pélvis · Ausência de cúbito e fíbula congénita · Défice grave dos membros · Síndrome Al-Awadi-Raas-Rothschild |
| pl | Fokomelia, typ Schinzela | Aplazja/hipoplazja kończyn i miednicy · Ciężki ubytek kończyn · Wrodzony brak kości łokciowej i strzałkowej · Zespół Al Awadi, Raasa i Rothschilda |
| cs | Fokomelie, Schinzelův typ | Al Awadiové-Raas-Rothschildové syndrom · Vrozená absence ulny a fibuly · Aplázie/hypoplázie končetin a pánve · Těžký defekt končetin · Al Awadi-Raas-Rothschildové syndrom |
| uk | Фокомелія, вид Шинцеля | Синдром Аль-Аваді-Раас-Ротшильда · Аплазія/гіпоплазія кінцівок і тазу · Вроджена відсутність ліктьової та малогомілкової кісток · Виражений дефіцит кінцівок |
| zh | 海豹肢畸形，Schinzel型 | 四肢和骨盆发育不全 |
| tr | Phocomelia, Schinzel türü | Ağır ekstremite eksikliği · Al Awadi-Raas-Rothschild sendromu · Ulna ve fibulanın doğumsal yokluğu · Ekstremite ve pelvis aplazisi / hipoplazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 276820 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0010164 | E | validated | |
| MeSH | C535612 | E | validated | |
| UMLS | C1848651 | E | validated | |
| GARD | 9212 | 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 (2):
- ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WNT7A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12786 | ENSG00000154764 | 601570 | 3p25.1 | Wnt family member 7A | 23922166[PMID]_23266637[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0003982 | Absent ulna | |
| HP:0009103 | Aplasia/Hypoplasia involving the pelvis | |
| HP:0008517 | Aplasia/Hypoplasia of the sacrum | |
| HP:0006487 | Bowing of the long bones | |
| HP:0003498 | Disproportionate short stature | |
| HP:0100257 | Ectrodactyly | |
| HP:0002990 | Fibular aplasia | |
| HP:0009380 | Finger aplasia | |
| HP:0001849 | Foot oligodactyly | |
| HP:0002983 | Micromelia | |
| HP:0002164 | Nail dysplasia | |
| Frequent (79-30%) | ||
| HP:0000151 | Aplasia of the uterus | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000347 | Micrognathia | |
| HP:0002986 | Radial bowing | |
| HP:0000470 | Short neck | |
| Occasional (29-5%) | ||
| HP:0002023 | Anal atresia | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0002705 | High, narrow palate | |
| HP:0003041 | Humeroradial synostosis | |
| HP:0001789 | Hydrops fetalis | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0002435 | Meningocele | |
| HP:0000411 | Protruding ear | |
| HP:0003196 | Short nose | |
| HP:0001362 | Skull defect | |
| HP:0001883 | Talipes | |
| HP:0002575 | Tracheoesophageal fistula | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2879
- This record as JSON: /data/d/2879.json