ORPHA:93932
FG syndrome type 1
Synonyms: Opitz-Kaveggia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FG syndrome type 1 | Opitz-Kaveggia syndrome |
| fr | Syndrome FG type 1 | Syndrome d'Opitz-Kaveggia |
| de | FG-Syndrom Type 1 | Opitz-Kaveggia-Syndrom |
| es | Síndrome FG tipo 1 | Síndrome de Opitz-Kaveggia |
| it | Sindrome FG, tipo 1 | Sindrome di Opitz-Kaveggia |
| nl | FG-syndroom type 1 | Syndroom van Opitz-Kaveggia |
| pt | Síndrome FG tipo 1 | |
| pl | Zespół FG typu 1 | Zespół Opitza i Kaveggia |
| cs | FG syndrom typ 1 | Opitz-Kaveggiové syndrom |
| uk | Синдром ФГ, тип 1 | Синдром Опітца-Кавеггіа |
| zh | FG综合征1型 | Opitz-Kaveggia综合征 |
| tr | FG sendromu tip 1 | Opitz-Kaveggia sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 305450 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0010590 | E | validated | |
| MeSH | C537923 | E | validated | |
| UMLS | C5399762 | E | validated | |
| GARD | 2317 | 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: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:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MED12 | Disease-causing germline mutation(s) in | Assessed | HGNC:11957 | ENSG00000184634 | 300188 | Xq13.1 | mediator complex subunit 12 | 20301719[PMID]_17334363[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only | Validated | 17574621[PMID]_ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 17574621[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.
6
HPO phenotypes
72 annotations · validated 2019-04-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002250 | Abnormal large intestine morphology | |
| HP:0000766 | Abnormal sternum morphology | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0001631 | Atrial septal defect | |
| HP:0000475 | Broad neck | |
| HP:0001837 | Broad toe | |
| HP:0002136 | Broad-based gait | |
| HP:0000028 | Cryptorchidism | |
| HP:0000378 | Cupped ear | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000678 | Dental crowding | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002307 | Drooling | |
| HP:0002236 | Frontal upsweep of hair | |
| HP:0011090 | Fused teeth | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0008935 | Generalized neonatal hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0005852 | Limited elbow extension and supination | |
| HP:0000343 | Long philtrum | |
| HP:0000256 | Macrocephaly | |
| HP:0000272 | Malar flattening | |
| HP:0004785 | Malrotation of colon | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0001763 | Pes planus | |
| HP:0001357 | Plagiocephaly | |
| HP:0001622 | Premature birth | |
| HP:0000448 | Prominent nose | |
| HP:0000269 | Prominent occiput | |
| HP:0002021 | Pyloric stenosis | |
| HP:0004322 | Short stature | |
| HP:0001533 | Slender build | |
| HP:0012506 | Small pituitary gland | |
| HP:0000402 | Stenosis of the external auditory canal | |
| HP:0000486 | Strabismus | |
| HP:0012471 | Thick vermilion border | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000154 | Wide mouth | |
| HP:0004492 | Widely patent fontanelles and sutures | |
| Occasional (29-5%) | ||
| HP:0012433 | Abnormal social behavior | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0002023 | Anal atresia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000453 | Choanal atresia | |
| HP:0040022 | Clinodactyly of the 2nd finger | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000722 | Compulsive behaviors | |
| HP:0002019 | Constipation | |
| HP:0001363 | Craniosynostosis | |
| HP:0009762 | Facial wrinkling | |
| HP:0006101 | Finger syndactyly | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000238 | Hydrocephalus | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0000194 | Open mouth | |
| HP:0005876 | Progressive flexion contractures | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0000960 | Sacral dimple | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000331 | Short chin | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0001537 | Umbilical hernia | |
Annotation source: 19938245[PMID]_4365204[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93932
- This record as JSON: /data/d/93932.json