ORPHA:500055
Hao-Fountain syndrome due to 16p13.2 microdeletion
Synonyms: Chromosome 16p13.2 deletion syndrome · Del(16)(p13.2) · Monosomy 16p13.2
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy
- Status
- active
A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hao-Fountain syndrome due to 16p13.2 microdeletion | Chromosome 16p13.2 deletion syndrome · Del(16)(p13.2) · Monosomy 16p13.2 |
| fr | Syndrome Hao-Fountain due à la microdélétion 16p13.2 | Del(16)(p13.2) · Monosomie 16p13.2 |
| de | Hao-Fountain-Syndrom durch Mikrodeletion 16p13.2 | Del(16)(p13.2) |
| es | Síndrome de microdeleción 16p13.2 | Del(16)(p13.2) · Monosomía 16p13.2 |
| it | Sindrome da microdelezione 16p13.2 | Del(16)(p13.2) · Monosomia 16p13.2 |
| nl | 16p13.2-microdeletiesyndroom | Del(16)(p13.2) · Monosomie 16p13.2 |
| pt | Síndrome Hao-Fountain por microdeleção 16p13.2 | Del(16)(p13.2) · Monossomia 16p13.2 |
| pl | Zespół mikrodelecji 16p13.2 | Del(16)(p13.2) · Monosomia 16p13.2 |
| cs | Mikrodeleční syndrom 16p13.2 | Del(16)(p13.2) · Monozomie 16p13.2 |
| uk | Синдром Хао-Фонтена внаслідок мікроделеції 16p13.2 | Синдром делеції хромосоми 16p13.2 · Del(16)(p13.2) · Моносомія 16p13.2 |
| zh | 16p13.2微缺失综合征 | 16p13.缺失 |
| tr | 16p13.2 mikrodelesyon sendromu | Del(16)(p13.2) · Monozomi 16p13.2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616863 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0100528 | E | validated | |
| UMLS | C5680086 | 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 (2):
- ORPHA:643549Hao-Fountain syndrome
rare genetic diseases; rare neurological diseases - ORPHA:261956Partial deletion of the short arm of chromosome 16 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 |
|---|---|---|---|---|---|---|---|---|
| USP7 | Role in the phenotype of | Assessed | HGNC:12630 | ENSG00000187555 | 602519 | 16p13.2 | ubiquitin specific peptidase 7 | 26365382[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 26365382[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26365382[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
53 annotations · validated 2020-01-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0002099 | Asthma | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000729 | Autistic behavior | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0012450 | Chronic constipation | |
| HP:0007082 | Dilated third ventricle | |
| HP:0000565 | Esotropia | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001288 | Gait disturbance | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000135 | Hypogonadism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0025160 | Abnormal temper tantrums | |
| HP:0001344 | Absent speech | |
| HP:0000248 | Brachycephaly | |
| HP:0002028 | Chronic diarrhea | |
| HP:0000028 | Cryptorchidism | |
| HP:0001558 | Decreased fetal movement | |
| HP:0001371 | Flexion contracture | |
| HP:0000365 | Hearing impairment | |
| HP:0001385 | Hip dysplasia | |
| HP:0000238 | Hydrocephalus | |
| HP:0100710 | Impulsivity | |
| HP:0002808 | Kyphosis | |
| HP:0000252 | Microcephaly | |
| HP:0000054 | Micropenis | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0008770 | Obsessive-compulsive trait | |
| HP:0025502 | Overweight | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0001357 | Plagiocephaly | |
| HP:0002033 | Poor suck | |
| HP:0004482 | Relative macrocephaly | |
| HP:0002650 | Scoliosis | |
| HP:0001773 | Short foot | |
| HP:0012166 | Skin-picking | |
| HP:0002360 | Sleep abnormality | |
| HP:0010535 | Sleep apnea | |
| HP:0200055 | Small hand | |
| HP:0000486 | Strabismus | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30679821[PMID]_26365382[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/500055
- This record as JSON: /data/d/500055.json