MCID: SHP004
MIFTS: 21

Shprintzen Omphalocele Syndrome

Categories: Fetal diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Shprintzen Omphalocele Syndrome

MalaCards integrated aliases for Shprintzen Omphalocele Syndrome:

Name: Shprintzen Omphalocele Syndrome 56 52 71
Omphalocele with Hypoplasia of Pharynx and Larynx, Learning Disability, Dysmorphic Facies, and Scoliosis 56 52
Pharynx and Larynx Hypoplasia with Omphalocele 56 52
Omphalocele Syndrome, Shprintzen-Goldberg Type 52 58
Omphalocele, Laryngeal and Pharyngeal Hypoplasia, Learning Disabilities, Dysmorphic Facies and Spinal Anomalies 52
Laryngeal and Pharyngeal Hypoplasia with Omphalocele 52
Shprintzen-Goldberg Omphalocele Syndrome 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
shprintzen omphalocele syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Shprintzen Omphalocele Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3164 Definition ShprintzenGoldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis , mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. Visit the Orphanet disease page for more resources.

MalaCards based summary : Shprintzen Omphalocele Syndrome, also known as omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis, is related to omphalocele and anus, imperforate, and has symptoms including nasal flaring Related phenotypes are scoliosis and muscular hypotonia

More information from OMIM: 182210

Related Diseases for Shprintzen Omphalocele Syndrome

Diseases related to Shprintzen Omphalocele Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 omphalocele 10.6
2 anus, imperforate 10.4
3 scoliosis 10.4
4 learning disability 10.4

Symptoms & Phenotypes for Shprintzen Omphalocele Syndrome

Human phenotypes related to Shprintzen Omphalocele Syndrome:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 high pitched voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001620
5 sparse lateral eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0005338
6 laryngeal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008749
7 anteroposteriorly shortened larynx 58 31 hallmark (90%) Very frequent (99-80%) HP:0005956
8 hypoplasia of the pharynx 58 31 hallmark (90%) Very frequent (99-80%) HP:0009555
9 abnormal eyelash morphology 31 hallmark (90%) HP:0000499
10 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
11 neonatal respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002643
12 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
13 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
14 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
15 omphalocele 58 31 frequent (33%) Frequent (79-30%) HP:0001539
16 short columella 58 31 frequent (33%) Frequent (79-30%) HP:0002000
17 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
18 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
19 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
20 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
21 chronic diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002028
22 narrow chest 31 occasional (7.5%) HP:0000774
23 kyphosis 31 HP:0002808
24 wide nasal bridge 31 HP:0000431
25 abnormal facial shape 31 HP:0001999
26 short stature 31 HP:0004322
27 generalized hypotonia 31 HP:0001290
28 epicanthus 31 HP:0000286
29 specific learning disability 31 HP:0001328
30 abnormality of the eyelashes 58 Very frequent (99-80%)
31 thin vermilion border 31 HP:0000233
32 abnormality of the mouth 31 HP:0000153
33 decreased body weight 31 HP:0004325
34 single umbilical artery 31 HP:0001195
35 lumbar hyperlordosis 31 HP:0002938
36 flared nostrils 31 HP:0000454

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis
lumbar lordosis

Respiratory:
neonatal respiratory distress

Abdomen External Features:
omphalocele

Head And Neck Nose:
short columella
flared nostrils
broad nasal bridge

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
thin lips
downturned oral commissures

Growth Weight:
low weight (<25% centile)

Head And Neck Neck:
webbed neck (1 patient)

Chest External Features:
narrow shoulders (1 patient)

Head And Neck Eyes:
epicanthus
unusual eyebrow pattern
s-shaped eyelids

Voice:
high pitched voice

Prenatal Manifestations Placenta And Umbilical Cord:
single umbilical artery

Respiratory Larynx:
laryngeal hypoplasia
anteroposteriorly shortened larynx

Neurologic Central Nervous System:
learning disability

Growth Height:
short stature (<25% centile)

Head And Neck Face:
mildly dysmorphic facies

Respiratory Nasopharynx:
pharyngeal hypoplasia
constricted glottic and subglottic airway

Abdomen Gastrointestinal:
imperforate anus (1 patient)

Clinical features from OMIM:

182210

UMLS symptoms related to Shprintzen Omphalocele Syndrome:


nasal flaring

Drugs & Therapeutics for Shprintzen Omphalocele Syndrome

Search Clinical Trials , NIH Clinical Center for Shprintzen Omphalocele Syndrome

Genetic Tests for Shprintzen Omphalocele Syndrome

Anatomical Context for Shprintzen Omphalocele Syndrome

Publications for Shprintzen Omphalocele Syndrome

Articles related to Shprintzen Omphalocele Syndrome:

# Title Authors PMID Year
1
Shprintzen-Goldberg omphalocele syndrome: a new patient with an expanded phenotype. 61 56
16411191 2006
2
Dysmorphic facies, omphalocele, laryngeal and pharyngeal hypoplasia, spinal anomalies, and learning disabilities in a new dominant malformation syndrome. 56
526588 1979
3
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007
4
A microdeletion 22q11.2 can resemble Shprintzen-Goldberg omphalocele syndrome. 61
17103454 2006

Variations for Shprintzen Omphalocele Syndrome

Expression for Shprintzen Omphalocele Syndrome

Search GEO for disease gene expression data for Shprintzen Omphalocele Syndrome.

Pathways for Shprintzen Omphalocele Syndrome

GO Terms for Shprintzen Omphalocele Syndrome

Sources for Shprintzen Omphalocele Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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