Goldberg-Shprintzen megacolon syndrome
Synonyms: GOSHS · Megacolon-microcephaly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Goldberg-Shprintzen megacolon syndrome | GOSHS · Megacolon-microcephaly syndrome |
| fr | Syndrome de Goldberg-Shprintzen avec mégacôlon | GOSHS · Syndrome de mégacôlon-microcéphalie |
| de | Goldberg-Shprintzen-Megakolon-Syndrom | GOSHS · Megakolon - Mikrozephalie |
| es | Síndrome de megacolon de Goldberg-Shprintzen | GOSHS · Megacolon-microcefalia |
| it | Sindrome da megacolon di Goldberg-Shprintzen | GOSHS · Megacolon - microcefalia |
| nl | Megacolonsyndroom van Goldberg-Shprintzen | GOSHS · Megacolon - microcefalie-syndroom |
| pt | Síndrome de megalocólon de Goldberg-Shprintzen | GOSHS · Megalocólon - microcefalia |
| pl | Zespół okrężnicy olbrzymiej Goldberga i Shprintzena | GOSHS · Okrężnica olbrzymia - mikrocefalia |
| cs | Shprintzenův-Goldbergové syndrom | GOSHS · Syndrom zahrnující megakolon a mikrocefalii · Goldbergové-Shprintzenův megakolonový syndrom · Shprintzen-Goldbergové syndrom · Goldberg-Shprintzenův megakolonový syndrom |
| uk | Синдром мегаколон Гольдберга-Шпринцена | GOSHS · Синдром мегаколон-мікроцефалії |
| zh | Goldberg-Shprintzen巨结肠综合征 | 巨结肠-小头综合征 |
| tr | Goldberg-Shprintzen megakolon sendromu | GOSHS · Megakolon-mikrosefali sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609460 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0012280 | E | validated | |
| MeSH | C537279 | E | validated | |
| UMLS | C1836123 | E | validated | |
| GARD | 9849 | 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 (6):
- 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:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:104009Rare disease involving intestinal motility
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:557866Rare disorder with Hirschsprung disease as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIFBP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23419 | ENSG00000198954 | 609367 | 10q22.1 | kinesin family binding protein | 15883926[PMID]_23427148[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | [EXPERT]_28277559[PMID]_23427148[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
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
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002251 | Aganglionic megacolon | |
| HP:0000175 | Cleft palate | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0001252 | Hypotonia | |
| HP:0000612 | Iris coloboma | |
| HP:0000508 | Ptosis | |
| Occasional (29-5%) | ||
| HP:0000048 | Bifid scrotum | |
| HP:0006101 | Finger syndactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000047 | Hypospadias | |
| HP:0000400 | Macrotia | |
| HP:0001302 | Pachygyria | |
| HP:0000307 | Pointed chin | |
| HP:0001250 | Seizure | |
| HP:0000340 | Sloping forehead | |
| HP:0045075 | Sparse eyebrow | |
| HP:0002209 | Sparse scalp hair | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 12687674[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/66629
- This record as JSON: /data/d/66629.json