ORPHA:1001
2q37 microdeletion syndrome
Synonyms: Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome · Brachydactyly-intellectual disability syndrome · Del(2)(q37) · Deletion 2q37 · Monosomy 2q37qter
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2q37 microdeletion syndrome | Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome · Brachydactyly-intellectual disability syndrome · Del(2)(q37) · Deletion 2q37 · Monosomy 2q37qter |
| fr | Syndrome de microdélétion 2q37 | Del(2)(q37) · Délétion 2q37 · Monosomie 2q37qter · Ostéodystrophie héréditaire d'Albright type 3 · Syndrome de brachydactylie-déficience intellectuelle |
| de | Mikrodeletionssyndrom 2q37 | Albright-Osteodystrophie, hereditäre, Typ 3 · Albright-Osteodystrophie-ähnliches Syndrom · Brachydaktylie-Intelligenzminderung-Syndrom · Del(2)(q37) · Deletion 2q37 · Monosomie 2q37qter |
| es | Síndrome de microdeleción 2q37 | Del(2)(q37) · Deleción 2q37 · Monosomía 2q37qter · Osteodistrofia hereditaria de Albright tipo 3 · Síndrome de braquidactilia-discapacidad intelectual · Síndrome de osteodistrofia hereditaria similar a Albright |
| it | Sindrome da microdelezione 2q37 | Sindrome brachidattilia-disabilità intellettiva · Del(2)(q37) · Delezione 2q37 · Monosomia 2q37qter · Monosomia 2q37-qter · Osteodistrofia ereditaria di Albright, tipo 3 · Osteodistrofia ereditaria di Albright tipo 3 · Sindrome simile allâosteodistrofia ereditaria di Albright |
| nl | 2q37-microdeletiesyndroom | Albright erfelijke osteodystrofie-achtig syndroom · Brachydactylie - intellectuele achterstand-syndroom · Del(2)(q37) · Deletie 2q37 · Erfelijke osteodystrofie van Albright type 3 · Monosomie 2q37qter |
| pt | Síndrome de microdeleção 2q37 | Del(2)(q37) · Deleção 2q37 · Monossomia 2q37qter · Osteodistrofia hereditária Albright tipo 3 · Síndrome de braquidactilia-perturbação do desenvolvimento intelectual · Síndrome de osteodistrofia-like hereditária Albright |
| pl | Zespół mikrodelecji 2q37 | Brachydaktylia-niepełnosprawność intelektualna · Del(2)(q37) · Delecja 2q37 · Delecja 2q37-qter · Dziedziczna osteodystrofia Albrighta 3 · Monosomia 2q37-qter · Zespół podobny do dziedzicznej osteodystrofii Albrighta · Del(2)(q37) · Delecja 2q37 · Delecja 2q37-qter · Monosomia 2q37-qter · Dziedziczna osteodystrofia Albrighta typu 3 · Zespół brachydaktylii i niepełnosprawności intelektualnej · Zespół podobny do dziedzicznej osteodystrofii Albrighta |
| cs | Mikrodeleční syndrom 2q37 | Albrightova hereditární osteodystrofie, typ III · Brachydaktylie a mentální retardace · Del(2)(q37) · Delece 2q37 · Delece 2q37-qter · Monozomie 2q37-qter · Syndrom podobný Albrightově hereditární osteodystrofii |
| uk | Синдром мікроделеції 2q37 | Спадкова остеодистрофія Олбрайта, тип 3 · Спадковий остеодистрофічний синдром Олбрайта · Синдром брахідактилії - інтелектуальної недостатності · Del(2)(q37) · Делеція 2q37 · Моносомія 2q37qter |
| zh | 2q37微缺失综合征 | Albright遗传性骨营养不良样综合征 |
| tr | 2q37 mikrodelesyon sendromu | Del (2) (q37) · Delesyon 2q37 · Monzomi 2q37qter · Albright kalıtsal osteodistrofi tip 3 · Brakidaktili-zihinsel yetersizlik sendromu · Albright kalıtsal osteodistrofi benzeri sendrom |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600430 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.20 | NTBT | index | validated |
| MONDO | 0010886 | E | validated | |
| MeSH | C538317 | E | validated | |
| UMLS | C2931817 | E | validated | |
| GARD | 10202 | 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 (4):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 - ORPHA:262010Partial deletion of the long arm of chromosome 2 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HDAC4 | Role in the phenotype of | Assessed | HGNC:14063 | ENSG00000068024 | 605314 | 2q37.3 | histone deacetylase 4 | 20691407[PMID]_23188045[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 115 cases | Worldwide | Case(s) | Validated | 36833393[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 36833393[PMID]_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.
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HPO phenotypes
52 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0011800 | Midface retrusion | |
| HP:0000311 | Round face | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0000708 | Atypical behavior | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001156 | Brachydactyly | |
| HP:0010761 | Broad columella | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000490 | Deeply set eye | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0006101 | Finger syndactyly | |
| HP:0002007 | Frontal bossing | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001382 | Joint hypermobility | |
| HP:0000252 | Microcephaly | |
| HP:0001513 | Obesity | |
| HP:0001250 | Seizure | |
| HP:0001773 | Short foot | |
| HP:0010049 | Short metacarpal | |
| HP:0004279 | Short palm | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0045075 | Sparse eyebrow | |
| HP:0002209 | Sparse scalp hair | |
| HP:0002558 | Supernumerary nipple | |
| HP:0000233 | Thin vermilion border | |
| HP:0001770 | Toe syndactyly | |
| HP:0001537 | Umbilical hernia | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0006610 | Wide intermamillary distance | |
| Occasional (29-5%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001601 | Laryngomalacia | |
| HP:0000256 | Macrocephaly | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0002667 | Nephroblastoma | |
| HP:0002021 | Pyloric stenosis | |
| HP:0000470 | Short neck | |
| HP:0002360 | Sleep abnormality | |
| HP:0002779 | Tracheomalacia | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1001
- This record as JSON: /data/d/1001.json