Goldberg-Shprintzen megacolon syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: GOSHS
Megacolon - microcephaly
Number of Symptoms 55
OrphanetNr: 66629
OMIM Id: 609460
ICD-10: Q87.8
UMLs: C1836123
MeSH: C537279
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Ptosis
 -Rare eye disease
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic intestinal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
2
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
3
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
4
 (HPO:0000426) Prominent nasal bridge 121 / 7739
5
 (HPO:0000574) Thick eyebrow 96 / 7739
6
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
7
 (HPO:0002553) Highly arched eyebrow 92 / 7739
8
 (HPO:0000322) Short philtrum 130 / 7739
9
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Occasional [Orphanet] 117 / 7739
10
 (HPO:0000414) Bulbous nose 63 / 7739
11
 (HPO:0000470) Short neck 345 / 7739
12
 (HPO:0012471) Thick vermilion border 115 / 7739
13
 (HPO:0000431) Wide nasal bridge Occasional [Orphanet] 290 / 7739
14
 (HPO:0000307) Pointed chin Occasional [Orphanet] 45 / 7739
15
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
16
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
17
 (HPO:0000664) Synophrys 112 / 7739
18
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
19
 (HPO:0000340) Sloping forehead Occasional [Orphanet] 86 / 7739
20
 (HPO:0000506) Telecanthus 156 / 7739
21
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
22
 (HPO:0000592) Blue sclerae 85 / 7739
23
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
24
 (HPO:0200020) Corneal erosion 12 / 7739
25
 (HPO:0100583) Corneal perforation 4 / 7739
26
 (HPO:0000495) Recurrent corneal erosions 20 / 7739
27
 (HPO:0000485) Megalocornea 26 / 7739
28
 (HPO:0000369) Low-set ears 372 / 7739
29
 (HPO:0001249) Intellectual disability 1089 / 7739
30
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
31
 (HPO:0002251) Aganglionic megacolon Very frequent [Orphanet] 78 / 7739
32
 (HPO:0001263) Global developmental delay 853 / 7739
33
 (HPO:0006610) Wide intermamillary distance 46 / 7739
34
 (HPO:0200055) Small hand 71 / 7739
35
 (HPO:0001182) Tapered finger 93 / 7739
36
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
37
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
38
 (HPO:0008070) Sparse hair 94 / 7739
39
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
40
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
41
 (HPO:0030084) Clinodactyly 90 / 7739
42
 (OMIM) High-arched, dense eyebrows 1 / 7739
43
 (OMIM) Curled eyelashes 1 / 7739
44
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
45
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
46
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
47
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
48
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
49
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
50
 (HPO:0012804) Corneal ulceration 6 / 7739
51
 (HPO:0001302) Pachygyria 60 / 7739
52
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
53
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
54
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
55
 (HPO:0002126) Polymicrogyria 64 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Goldberg and Shprintzen (1981) described a brother and sister with Hirschsprung megacolon, microcephaly, hypertelorism, submucous cleft palate, short stature, and learning problems. Hurst et al. (1988) described a consanguineous Pakistani pedigree in which 2 boys (cases 1 and ...
Molecular genetics OMIM In affected members of 2 families segregating Goldberg-Shprintzen megacolon syndrome, the Moroccan family previously reported by Brooks et al. (1999) and a British Pakistani family, Brooks et al. (2005) identified homozygous nonsense mutations in the KIAA1279 gene (609367.0001-609367.0002). ...