Growth delay-hydrocephaly-lung hypoplasia syndrome
Synonyms: Game-Friedman-Paradice syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- active
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Growth delay-hydrocephaly-lung hypoplasia syndrome | Game-Friedman-Paradice syndrome |
| fr | Syndrome de retard de croissance-hydrocéphalie-hypoplasie pulmonaire | Syndrome de Game-Friedman-Paradice |
| de | Wachstumsretardierung-Hydrozephalus-Lungenhypoplasie-Syndrom | Game-Friedman-Paradice-Syndrom |
| es | Síndrome de retraso de crecimiento-hidrocefalia-hipoplasia pulmonar | Síndrome de Game-Friedman-Paradice |
| it | Ritardo della crescita - idrocefalo - ipoplasia dei polmoni | Sindrome di Game-Friedman-Paradice |
| nl | Groeiachterstand - hydrocefalie - longhypoplasie-syndroom | Syndroom van Game-Friedman-Paradice |
| pt | Síndrome de atraso do crescimento-hidrocefalia-hipoplasia pulmonar | Síndrome Game-Friedman-Paradice |
| pl | Opóźnienie wzrostu - wodogłowie - hipoplazja płuc | Zespół Game'a, Friedmana i Paradicego |
| cs | Syndrom zahrnující opožděný růst, hydrocefalus a hypoplázii plic | Gameův-Friedmanův-Paradiceho syndrom · Game-Friedman-Paradiceho syndrom |
| uk | Синдром затримки росту-гідроцефалії-гіпоплазії легень | Синдром Гейма-Фрідмана-Парадіса |
| zh | 生长延迟-脑积水-肺发育不全综合征 | Game-Friedman-Paradice综合征 |
| tr | Büyüme geriliği-hidrosefali-akciğer hipoplazisi sendromu | Game-Friedman-Paradice sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236640 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0009362 | E | validated | |
| MeSH | C535406 | E | validated | |
| UMLS | C1856052 | E | validated | |
| GARD | 2427 | 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 (3):
- ORPHA:183622Genetic respiratory malformation
rare genetic diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases - ORPHA:108995Syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare surgical thoracic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 2764038[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2764038[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.
HPO phenotypes
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002814 | Abnormality of the lower limb | |
| HP:0002410 | Aqueductal stenosis | |
| HP:0006487 | Bowing of the long bones | |
| HP:0002566 | Intestinal malrotation | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0009816 | Lower limb undergrowth | |
| HP:0000347 | Micrognathia | |
| HP:0001539 | Omphalocele | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0002986 | Radial bowing | |
| Occasional (29-5%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0002514 | Cerebral calcification | |
| HP:0001744 | Splenomegaly | |
| HP:0002982 | Tibial bowing | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 10 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3035
- This record as JSON: /data/d/3035.json