ORPHA:3301
Tetraamelia-multiple malformations syndrome
Synonyms: PAPPA syndrome · PAPPAS · Zimmer phocomelia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tetraamelia-multiple malformations syndrome | PAPPA syndrome · PAPPAS · Zimmer phocomelia |
| fr | Syndrome de tetra-amélie-malformations multiples | PAPPAS · Phocomélie de Zimmer · Syndrome PAPPA |
| de | Syndrom der Tetraamelie mit multiplen Fehlbildungen | PAPPA-Syndrom · PAPPAS · PAPPAS-Syndrom · Zimmer-Phokomelie |
| es | Síndrome de tetraamelia-malformaciones múltiples | Focomelia de Zimmer · PAPPAS · Síndrome PAPPA |
| it | Sindrome tetra-amelia-malformazioni multiple | Sindrome di PAPPA · PAPPAS · Focomelia di Zimmer |
| nl | Tetra-amelie - multipele malformaties-syndroom | Focomelie van Zimmer · PAPPA-syndroom · PAPPAS |
| pt | Síndrome de tetra-amelia-malformações múltiplas | Focomelia Zimmer · PAPPAS · Síndrome PAPPA |
| pl | Tetraamelia - mnogie malformacje | Fokomelia Zimmera |
| cs | Syndrom zahrnující tetraamelii a mnohočetné malformace | Zimmerova fokomelie |
| uk | Синдром тетраамелії - множинних вад розвитку | Фокомелія Циммера |
| zh | 无四肢-多发畸形综合征 | Zimmer短肢畸形 |
| tr | Tetraamelia-çoklu malformasyon sendromu | Zimmer fokomeli |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 273395 | BTNT | validated | |
| OMIM | 601360 | BTNT | validated | |
| OMIM | 618021 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0010110 | E | validated | |
| MeSH | C536500 | E | validated | |
| UMLS | C2931218 | E | validated | |
| GARD | 386 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1027Autosomal recessive amelia moved to · inactive
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WNT3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12782 | ENSG00000108379 | 165330 | 17q21.31-q21.32 | Wnt family member 3 | 14872406[PMID]_20301453[PMID] |
| RSPO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:28583 | ENSG00000147655 | 610575 | 8q23.1 | R-spondin 2 | 29769720[PMID] |
| TBX4 | Disease-causing germline mutation(s) in | Assessed | HGNC:11603 | ENSG00000121075 | 601719 | 17q23.2 | T-box transcription factor 4 | 31965066[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301453[PMID] |
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 20301453[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.
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HPO phenotypes
35 annotations · validated 2024-07-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009924 | Aplasia/Hypoplasia involving the nose | |
| HP:0009103 | Aplasia/Hypoplasia involving the pelvis | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0000238 | Hydrocephalus | |
| HP:0008551 | Microtia | |
| HP:0000202 | Orofacial cleft | |
| HP:0001561 | Polyhydramnios | |
| HP:0003057 | Tetraamelia | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0001600 | Abnormality of the larynx | |
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0010494 | Acromelia of the lower limbs | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0009812 | Amelia involving the upper limbs | |
| HP:0002023 | Anal atresia | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0000518 | Cataract | |
| HP:0000028 | Cryptorchidism | |
| HP:0000293 | Full cheeks | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000612 | Iris coloboma | |
| HP:0000482 | Microcornea | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0000921 | Missing ribs | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0000160 | Narrow mouth | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000648 | Optic atrophy | |
| HP:0100842 | Septo-optic dysplasia | |
| HP:0000046 | Small scrotum | |
| HP:0002777 | Tracheal stenosis | |
| HP:0000148 | Vaginal atresia | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 7625439[PMID]_4076260[PMID]_31761294[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3301
- This record as JSON: /data/d/3301.json