Omphalocele syndrome, Shprintzen-Goldberg type

General Information (adopted from Orphanet):

Synonyms, Signs: OMPHALOCELE WITH HYPOPLASIA OF PHARYNX AND LARYNX, LEARNING DISABILITY, DYSMORPHIC FACIES, AND SCOLIOSIS
PHARYNX AND LARYNX HYPOPLASIA WITH OMPHALOCELE
Number of Symptoms 47
OrphanetNr: 3164
OMIM Id: 182210
ICD-10: Q79.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic diaphragmatic or abdominal wall malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0002000) Short columella 11 / 7739
3
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
4
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
5
 (HPO:0005338) Sparse lateral eyebrow Very frequent [Orphanet] 21 / 7739
6
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
7
 (HPO:0000465) Webbed neck Occasional [Orphanet] rare [HPO:skoehler] 81 / 7739
8
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
9
 (HPO:0000286) Epicanthus 371 / 7739
10
 (HPO:0000436) Abnormality of the nasal tip Frequent [Orphanet] 18 / 7739
11
 (HPO:0001999) Abnormal facial shape 169 / 7739
12
 (HPO:0000454) Flared nostrils 11 / 7739
13
 (HPO:0000431) Wide nasal bridge 290 / 7739
14
 (HPO:0002714) Downturned corners of mouth Frequent [Orphanet] 98 / 7739
15
 (HPO:0000600) Abnormality of the pharynx Very frequent [Orphanet] 22 / 7739
16
 (HPO:0009555) Hypoplasia of the pharynx 2 / 7739
17
 (HPO:0001328) Specific learning disability 114 / 7739
18
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
19
 (HPO:0000774) Narrow chest Occasional [Orphanet] rare [HPO:skoehler] 167 / 7739
20
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
21
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
22
 (HPO:0002808) Kyphosis 289 / 7739
23
 (HPO:0001195) Single umbilical artery 23 / 7739
24
 (HPO:0002023) Anal atresia Occasional [Orphanet] rare [HPO:skoehler] 135 / 7739
25
 (HPO:0001539) Omphalocele Frequent [Orphanet] 102 / 7739
26
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
27
 (HPO:0004322) Short stature 1232 / 7739
28
 (HPO:0004325) Decreased body weight 492 / 7739
29
 (HPO:0005956) Anteroposteriorly shortened larynx 1 / 7739
30
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
31
 (HPO:0008749) Laryngeal hypoplasia 5 / 7739
32
 (HPO:0001602) Laryngeal stenosis Very frequent [Orphanet] 21 / 7739
33
 (HPO:0001620) High pitched voice 32 / 7739
34
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
35
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
36
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
37
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
38
 (HPO:0001324) Muscle weakness 859 / 7739
39
 (HPO:0010547) Muscle flaccidity 466 / 7739
40
 (OMIM) Pharyngeal hypoplasia 1 / 7739
41
 (OMIM) Downturned oral commissures 1 / 7739
42
 (OMIM) Constricted glottic and subglottic airway 1 / 7739
43
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
44
 (OMIM) Mildly dysmorphic facies 1 / 7739
45
 (OMIM) S-shaped eyelids 1 / 7739
46
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
47
 (OMIM) Unusual eyebrow pattern 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shprintzen and Goldberg (1979) described a 'new' autosomal dominant malformation syndrome characterized by mildly dysmorphic facies, omphalocele, scoliosis, learning disabilities, and pharyngeal and laryngeal hypoplasia. A father and 3 daughters were affected; one of the daughters died in ...