ORPHA:2044
Floating-Harbor syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Floating-Harbor syndrome | |
| fr | Syndrome de Floating-Harbor | |
| de | Floating-Harbor-Syndrom | |
| es | Síndrome de Floating-Harbor | |
| it | Sindrome di Floating-Harbor | |
| nl | Floating-Harbor-syndroom | Syndroom van Leisti-Hollister-Rimoin |
| pt | Síndrome Floating-Harbor | Síndrome Leisti-Hollister-Rimoin |
| pl | Zespół Floating i Harbour | |
| cs | Syndrom Floating Harbor | |
| uk | Синдром Флоутинг-Харбора | |
| zh | Floating-Harbor综合征 | |
| tr | Floating-Harbor sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136140 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007621 | E | validated | |
| MeSH | C537062 | E | validated | |
| UMLS | C0729582 | E | validated | |
| GARD | 6455 | E | validated | |
| MedDRA | 10079943 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SRCAP | Disease-causing germline mutation(s) in | Assessed | HGNC:16974 | ENSG00000080603 | 611421 | 16p11.2 | Snf2 related CREBBP activator protein | 22965468[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_30425916[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.
6
HPO phenotypes
79 annotations · validated 2021-04-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| HP:0011098 | Speech apraxia | |
| Frequent (79-30%) | ||
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001510 | Growth delay | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000914 | Shield chest | |
| HP:0000470 | Short neck | |
| HP:0000486 | Strabismus | |
| HP:0000325 | Triangular face | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0000878 | 11 pairs of ribs | |
| HP:0025160 | Abnormal temper tantrums | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0001344 | Absent speech | |
| HP:0000718 | Aggressive behavior | |
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0001156 | Brachydactyly | |
| HP:0011300 | Broad fingertip | |
| HP:0000455 | Broad nasal tip | |
| HP:0002136 | Broad-based gait | |
| HP:0000670 | Carious teeth | |
| HP:0030084 | Clinodactyly | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0010957 | Congenital posterior urethral valve | |
| HP:0002019 | Constipation | |
| HP:0000028 | Cryptorchidism | |
| HP:0000490 | Deeply set eye | |
| HP:0010946 | Dilatation of the renal pelvis | |
| HP:0003083 | Dislocated radial head | |
| HP:0001260 | Dysarthria | |
| HP:0003037 | Enlarged joints | |
| HP:0030424 | Epididymal cyst | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001385 | Hip dysplasia | |
| HP:0003879 | Humeral pseudarthrosis | |
| HP:0000126 | Hydronephrosis | |
| HP:0000540 | Hypermetropia | |
| HP:0001611 | Hypernasal speech | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000047 | Hypospadias | |
| HP:0100710 | Impulsivity | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0003189 | Long nose | |
| HP:0009765 | Low hanging columella | |
| HP:0000369 | Low-set ears | |
| HP:0000691 | Microdontia | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000677 | Oligodontia | |
| HP:0006335 | Persistence of primary teeth | |
| HP:0000826 | Precocious puberty | |
| HP:0000104 | Renal agenesis | |
| HP:0000107 | Renal cyst | |
| HP:0000711 | Restlessness | |
| HP:0001250 | Seizure | |
| HP:0000736 | Short attention span | |
| HP:0000894 | Short clavicles | |
| HP:0010049 | Short metacarpal | |
| HP:0000322 | Short philtrum | |
| HP:0009778 | Short thumb | |
| HP:0012871 | Varicocele | |
| Very rare (<4-1%) | ||
| HP:0000593 | Abnormal anterior chamber morphology | |
| HP:0001631 | Atrial septal defect | |
| HP:0002608 | Celiac disease | |
| HP:0001680 | Coarctation of aorta | |
| HP:0008554 | Cochlear malformation | |
| HP:0012538 | Gluten intolerance | |
| HP:0011599 | Mesocardia | |
| HP:0005301 | Persistent left superior vena cava | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 31715605[PMID]_23193612[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2044
- This record as JSON: /data/d/2044.json