MCID: SHR098
MIFTS: 46

Short-Rib Thoracic Dysplasia 12

Categories: Rare diseases, Respiratory diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 12

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 12:

Name: Short-Rib Thoracic Dysplasia 12 53
Beemer-Langer Syndrome 53 12 14
Short Rib-Polydactyly Syndrome, Beemer Type 41 69
Short Rib-Polydactyly Syndrome Type 4 49 55
Short Rib-Polydactyly Syndrome, Beemer-Langer Type 55
Short Rib Polydactyly Syndrome Beemer-Langer Type 49
Short Rib-Polydactyly Syndrome, Type Iv; Srps4 53
Short Rib-Polydactyly Syndrome Beemer Type 49
Short Rib-Polydactyly Syndrome, Type Iv 53
Type Iv Short Rib Polydactyly Syndrome 12
Short Rib-Polydactyly Syndrome Type Iv 49
Short Rib Syndrome, Beemer Type 53
Beemer Langer Syndrome 49
Srps Type 4 49
Srps Iv 53
Srtd12 53
Srps4 53

Characteristics:

Orphanet epidemiological data:

55
short rib-polydactyly syndrome, beemer-langer type
Inheritance: Autosomal recessive;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
neonatal lethal due to respiratory insufficiency


HPO:

31
short-rib thoracic dysplasia 12:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 12

OMIM : 53 Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). (269860)

MalaCards based summary : Short-Rib Thoracic Dysplasia 12, also known as beemer-langer syndrome, is related to polydactyly and short-rib thoracic dysplasia 10 with or without polydactyly, and has symptoms including edema, macrocephaly and hypertelorism. An important gene associated with Short-Rib Thoracic Dysplasia 12 is TTC21B (Tetratricopeptide Repeat Domain 21B), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include bone, brain and kidney, and related phenotypes are Synthetic lethal with Ras and craniofacial

Disease Ontology : 12 A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly.

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93268Disease definitionShort rib-polydactylysyndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.Visit the Orphanet disease page for more resources. Last updated: 10/1/2016

Related Diseases for Short-Rib Thoracic Dysplasia 12

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 12:



Diseases related to Short-Rib Thoracic Dysplasia 12

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 12

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
epicanthal folds

Head And Neck Neck:
short neck
nuchal edema

Abdomen External Features:
inguinal hernia
omphalocele
protuberant abdomen

Head And Neck Mouth:
cleft palate
cleft lip
lobulated tongue
oral frenula
hamartomata of tongue

Chest External Features:
short thorax
narrow thorax

Growth Other:
intrauterine growth retardation

Cardiovascular Heart:
ventricular septal defect
patent foramen ovale

Genitourinary External Genitalia Male:
ambiguous genitalia
small phallus
fused labioscrotal folds

Respiratory Lung:
pulmonary hypoplasia
interstitial fibrosis
atelectatic lungs

Skeletal Hands:
short hands
broad hands
marked brachydactyly

Genitourinary Kidneys:
hypoplastic kidneys
cystic kidneys

Head And Neck Teeth:
natal teeth

Prenatal Manifestations:
hydrops

Abdomen Gastroin testinal:
malrotation

Chest Diaphragm:
high diaphragm

Abdomen Spleen:
enlarged and edematous spleen

Head And Neck Ears:
low-set ears
posteriorly rotated ears
malformed ears
small cavum conchae
narrow ear canals

Respiratory:
respiratory insufficiency

Abdomen:
ascites

Cardiovascular Vascular:
patent ductus arteriosus
transposition of the great vessels

Head And Neck Face:
flat face

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Neurologic Central Nervous System:
holoprosencephaly
anencephaly
hydrocephaly
hypothalamic hamartomas

Chest Breasts:
hypoplastic nipples
widely spaced nipples

Chest RibsSternum Clavicles And Scapulae:
short ribs
small scapulae
horizontal ribs
irregular, widened anterior ends of ribs
high clavicles

Skeletal Feet:
short feet
broad feet
marked brachydactyly

Skeletal Limbs:
short limbs
short long bones
limbs fixed in external rotation
bowed femora, mild
bowing of radius, marked
more
Skeletal Spine:
thoracic lordosis
delayed vertebral body ossification, mild

Head And Neck Head:
large head
high, bulging forehead

Head And Neck Nose:
flat broad nasal base

Abdomen Liver:
enlarged and edematous liver

Genitourinary Internal Genitalia Male:
intraabdominal testes


Clinical features from OMIM:

269860

Human phenotypes related to Short-Rib Thoracic Dysplasia 12:

31 (show top 50) (show all 54)
# Description HPO Frequency HPO Source Accession
1 edema 31 HP:0000969
2 macrocephaly 31 HP:0000256
3 hypertelorism 31 HP:0000316
4 low-set ears 31 HP:0000369
5 short neck 31 HP:0000470
6 hydrocephalus 31 HP:0000238
7 respiratory insufficiency 31 HP:0002093
8 inguinal hernia 31 HP:0000023
9 splenomegaly 31 HP:0001744
10 hepatomegaly 31 HP:0002240
11 ascites 31 HP:0001541
12 narrow chest 31 HP:0000774
13 patent ductus arteriosus 31 HP:0001643
14 short palm 31 HP:0004279
15 epicanthus 31 HP:0000286
16 short long bone 31 HP:0003026
17 short foot 31 HP:0001773
18 short thorax 31 HP:0010306
19 flat face 31 HP:0012368
20 intrauterine growth retardation 31 HP:0001511
21 wide intermamillary distance 31 HP:0006610
22 short toe 31 HP:0001831
23 abnormality of the pinna 31 HP:0000377
24 polyhydramnios 31 HP:0001561
25 renal hypoplasia 31 HP:0000089
26 ventricular septal defect 31 HP:0001629
27 intestinal malrotation 31 HP:0002566
28 atelectasis 31 HP:0100750
29 high forehead 31 HP:0000348
30 holoprosencephaly 31 HP:0001360
31 ambiguous genitalia 31 HP:0000062
32 short finger 31 HP:0009381
33 anencephaly 31 HP:0002323
34 omphalocele 31 HP:0001539
35 hypoplastic nipples 31 HP:0002557
36 median cleft lip and palate 31 HP:0008501
37 broad foot 31 HP:0001769
38 broad palm 31 HP:0001169
39 hypoplastic scapulae 31 HP:0000882
40 pulmonary hypoplasia 31 HP:0002089
41 posteriorly rotated ears 31 HP:0000358
42 patent foramen ovale 31 HP:0001655
43 limb undergrowth 31 HP:0009826
44 bowing of the legs 31 HP:0002979
45 hamartoma of tongue 31 HP:0011802
46 natal tooth 31 HP:0000695
47 short ribs 31 HP:0000773
48 protuberant abdomen 31 HP:0001538
49 cystic renal dysplasia 31 HP:0000800
50 lobulated tongue 31 HP:0000180

UMLS symptoms related to Short-Rib Thoracic Dysplasia 12:


edema

GenomeRNAi Phenotypes related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with Ras GR00018-A-0 8.92 EVC2 IFT80 NEK1 TTC21B

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 12:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.73 EVC2 IFT122 IFT80 NEK1 TTC21B WDR19
2 cellular MP:0005384 9.72 EVC2 IFT122 IFT80 TTC21B WDR19
3 growth/size/body region MP:0005378 9.55 WDR19 EVC2 IFT122 IFT80 NEK1
4 limbs/digits/tail MP:0005371 9.35 EVC2 IFT122 IFT80 TTC21B WDR19
5 skeleton MP:0005390 9.02 EVC2 IFT80 NEK1 TTC21B WDR19

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 12

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 12

Cochrane evidence based reviews: short rib-polydactyly syndrome, beemer type

Genetic Tests for Short-Rib Thoracic Dysplasia 12

Anatomical Context for Short-Rib Thoracic Dysplasia 12

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 12:

38
Bone, Brain, Kidney, Liver, Heart, Eye, Pancreas

Publications for Short-Rib Thoracic Dysplasia 12

Articles related to Short-Rib Thoracic Dysplasia 12:

# Title Authors Year
1
Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122. ( 28370949 )
2017
2
Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report. ( 19475553 )
2009
3
New case of Beemer-Langer syndrome. ( 10742417 )
2000
4
Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs. ( 8209908 )
1994
5
Short rib (polydactyly) syndrome type IV: Beemer-Langer syndrome. ( 8488883 )
1993
6
Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome. ( 1867273 )
1991

Variations for Short-Rib Thoracic Dysplasia 12

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 12:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TTC21B NM_024753.4(TTC21B): c.3605T> C (p.Leu1202Pro) single nucleotide variant Pathogenic rs759086770 GRCh38 Chromosome 2, 165883873: 165883873
2 TTC21B NM_024753.4(TTC21B): c.1320delT (p.Phe440Leufs) deletion Pathogenic rs775836730 GRCh37 Chromosome 2, 166785711: 166785711
3 IFT80 NM_020800.2(IFT80): c.487_490delCTTT (p.Leu163Ilefs) deletion Pathogenic GRCh38 Chromosome 3, 160366102: 160366105
4 NEK1 NM_001199397.1(NEK1): c.418G> A (p.Gly140Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 170510644: 170510644
5 WDR19 NM_025132.3(WDR19): c.475G> A (p.Asp159Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 39201166: 39201166
6 WDR19 NM_025132.3(WDR19): c.3484-2A> C single nucleotide variant Pathogenic GRCh38 Chromosome 4, 39272978: 39272978
7 EVC2 NM_147127.4(EVC2): c.3121C> T (p.Gln1041Ter) single nucleotide variant Likely pathogenic rs376133710 GRCh37 Chromosome 4, 5578118: 5578118
8 EVC2 NM_147127.4(EVC2): c.1708C> T (p.Gln570Ter) single nucleotide variant Pathogenic rs769864196 GRCh38 Chromosome 4, 5631795: 5631795

Expression for Short-Rib Thoracic Dysplasia 12

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 12.

Pathways for Short-Rib Thoracic Dysplasia 12

Pathways related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 IFT122 IFT80 TTC21B WDR19
2
Show member pathways
11.8 EVC2 IFT122 TTC21B WDR19
3 10.54 IFT122 IFT80 TTC21B WDR19

GO Terms for Short-Rib Thoracic Dysplasia 12

Cellular components related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.88 EVC2 IFT122 IFT80 NEK1 TTC21B WDR19
2 cytoskeleton GO:0005856 9.73 EVC2 IFT122 IFT80 NEK1 TTC21B WDR19
3 cell projection GO:0042995 9.72 EVC2 IFT122 IFT80 TTC21B WDR19
4 cilium GO:0005929 9.55 EVC2 IFT122 IFT80 TTC21B WDR19
5 photoreceptor connecting cilium GO:0032391 9.37 IFT122 WDR19
6 intraciliary transport particle A GO:0030991 9.13 IFT122 TTC21B WDR19
7 ciliary tip GO:0097542 8.92 IFT122 IFT80 TTC21B WDR19

Biological processes related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.58 IFT122 NEK1 WDR19
2 cilium assembly GO:0060271 9.56 IFT122 IFT80 NEK1 WDR19
3 negative regulation of epithelial cell proliferation GO:0050680 9.48 IFT122 IFT80
4 non-motile cilium assembly GO:1905515 9.46 IFT122 IFT80
5 protein localization to cilium GO:0061512 9.43 IFT122 TTC21B
6 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.37 IFT122 WDR19
7 intraciliary retrograde transport GO:0035721 9.33 IFT122 TTC21B WDR19
8 ciliary receptor clustering involved in smoothened signaling pathway GO:0060830 9.32 IFT122 WDR19
9 smoothened signaling pathway GO:0007224 9.26 EVC2 IFT80 TTC21B WDR19
10 intraciliary transport involved in cilium assembly GO:0035735 8.92 IFT122 IFT80 TTC21B WDR19

Sources for Short-Rib Thoracic Dysplasia 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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