Distal monosomy 7q36 syndrome
Synonyms: Distal deletion 7q36 · Monosomy 7qter · Telomeric deletion 7q36
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal monosomy 7q36 syndrome | Distal deletion 7q36 · Monosomy 7qter · Telomeric deletion 7q36 |
| fr | Syndrome de monosomie distale 7q36 | Délétion distale 7q36 · Délétion télomérique 7q36 · Monosomie 7qter |
| de | Distale Monosomie 7q36 | Distale Deletion 7q36 · Monosomie 7qter · Telomere Deletion 7q36 |
| es | Síndrome de monosomía terminal 7q36 | Deleción terminal 7q36 · Monosomía 7qter |
| it | Sindrome monosomia 7q36 distale | Delezione 7q36 distale · Delezione 7q36 telomerica · Monosomia 7qter |
| nl | Distale monosomie 7q36-syndroom | Distale deletie 7q36 · Monosomie 7qter · Telomerische deletie 7q36 |
| pt | Monossomia distal 7q36 | Deleção distal 7q36 |
| pl | Zespół monosomii dystalnej 7q36 | Dystalna delecja 7q36 · Monosomia 7qter · Telomerowa delecja 7q36 |
| cs | Distální monozomie 7q36 | Distální delece 7q36 · Monozomie 7qter · Telomerická delece 7q36 |
| uk | Дистальна моносомія 7q36 | Дистальна делеція 7q36 · Моносомія 7qter · Делеція теломерної ділянки 7q36 |
| zh | 7q36远端单倍体 | 7q36远端单倍体 |
| tr | Distal monozomi 7q36 | Monozomi 7qter · Distal delesyon 7q36 · Telomerik delesyon 7q36 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.70 | NTBT | index | validated |
| MONDO | 0015580 | E | validated | |
| UMLS | C4706504 | 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:262056Partial deletion of the long arm of chromosome 7 syndrome
rare developmental anomalies during embryogenesis; 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 15844773[PMID]_10521829[PMID]_39624702[PMID]_38847723[PMID]_ORPHANET |
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 15844773[PMID]_10521829[PMID]_39624702[PMID]_38847723[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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0002683 | Abnormality of the calvaria | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000414 | Bulbous nose | |
| HP:0012368 | Flat face | |
| HP:0000293 | Full cheeks | |
| HP:0001276 | Hypertonia | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001252 | Hypotonia | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0100729 | Large face | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000582 | Upslanted palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000400 | Macrotia | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0100790 | Hernia | |
| HP:0000648 | Optic atrophy | |
| HP:0000767 | Pectus excavatum | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| HP:0006610 | Wide intermamillary distance | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1636
- This record as JSON: /data/d/1636.json