Distal deletion 17q syndrome
Synonyms: Distal monosomy 17q · Monosomy 17qter · Telomeric deletion 17q
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal deletion 17q syndrome | Distal monosomy 17q · Monosomy 17qter · Telomeric deletion 17q |
| fr | Syndrome de délétion distale 17q | Délétion 17qter · Délétion télomérique 17q · Monosomie 17qter · Monosomie distale 17q |
| de | Distale Deletion 17q | Distale Monosomie 17q · Monosomie 17qter · Telomere Deletion 17q |
| es | Síndrome de deleción terminal 17q | Monosomía 17qter · Monosomía terminal 17q |
| it | Sindrome delezione 17q distale | Delezione 17q telomerica · Monosomia 17qter · Monosomia distale 17q |
| nl | Distale deletie 17q-syndroom | Distale monosomie 17q · Monosomie 17qter · Telomerische deletie 17q |
| pt | Deleção distal 17q | Deleção telomérica 17q · Monossomia 17qter · Monossomia distal 17q |
| pl | Zespół delecji dystalnej 17q | Dystalna delecja 17q · Monosomia 17qter · Telomerowa delecja 17q |
| cs | Distální monozomie 17q | Distální 17q delece · Monozomie 17qter · Telomerická delece 17q |
| uk | Дистальна делеція 17q | Дистальна моносомія 17q · Моносомія 17qter · Делеція теломерної ділянки 17q |
| zh | 17号染色体长臂远端单体 | 17号染色体长臂末端着丝粒缺失 |
| tr | Distal monozomi 17q | Monozomi 17qter · Distal 17q delesyonu · Telomerik delesyon 17q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.H0 | NTBT | index | validated |
| MONDO | 0015562 | E | validated | |
| UMLS | C4275171 | E | validated | |
| GARD | 10972 | 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:262137Partial deletion of the long arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
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:0001671 | Abnormal cardiac septum morphology | |
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0000288 | Abnormality of the philtrum | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0010293 | Aplasia/Hypoplasia of the uvula | |
| HP:0100555 | Asymmetric growth | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0004097 | Deviation of finger | |
| HP:0002240 | Hepatomegaly | |
| HP:0000316 | Hypertelorism | |
| HP:0000995 | Melanocytic nevus | |
| HP:0000252 | Microcephaly | |
| HP:0002983 | Micromelia | |
| HP:0008551 | Microtia | |
| HP:0000160 | Narrow mouth | |
| HP:0000648 | Optic atrophy | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001622 | Premature birth | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0004322 | Short stature | |
| HP:0010306 | Short thorax | |
| HP:0200055 | Small hand | |
| HP:0100560 | Upper limb asymmetry | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1597
- This record as JSON: /data/d/1597.json