MCID: SHR098
MIFTS: 27

Short-Rib Thoracic Dysplasia 12

Categories: Rare diseases, Genetic 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 54
Short Rib-Polydactyly Syndrome, Beemer Type 42 69
Short Rib-Polydactyly Syndrome Type 4 50 56
Beemer-Langer Syndrome 12 14
Short Rib Polydactyly Syndrome, Beemer-Langer Type 24
Short Rib-Polydactyly Syndrome, Beemer-Langer Type 56
Short Rib Polydactyly Syndrome Beemer-Langer Type 50
Short Rib-Polydactyly Syndrome Beemer Type 50
Short Rib Polydactyly Syndrome, Type Iv 24
Type Iv Short Rib Polydactyly Syndrome 12
Short Rib-Polydactyly Syndrome Type Iv 50
Short Rib Syndrome, Beemer-Langer Type 24
Beemer Langer Syndrome 50
Srps Type 4 50

Characteristics:

Orphanet epidemiological data:

56
short rib-polydactyly syndrome, beemer-langer type
Inheritance: Autosomal recessive;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
neonatal lethal due to respiratory insufficiency


HPO:

32
short-rib thoracic dysplasia 12:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 12

OMIM : 54
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 short rib-polydactyly syndrome, beemer type, is related to polydactyly and ciliopathy, and has symptoms including hepatomegaly, splenomegaly and high forehead. An important gene associated with Short-Rib Thoracic Dysplasia 12 is IFT122 (Intraflagellar Transport 122). Affiliated tissues include bone, brain and kidney.

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 : 50 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

Diseases related to Short-Rib Thoracic Dysplasia 12 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 polydactyly 10.2
2 ciliopathy 10.1
3 orofaciodigital syndrome 10.1

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 12

Symptoms via clinical synopsis from OMIM:

54

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

Head And Neck- Eyes:
epicanthal folds
hypertelorism

Growth- Other:
intrauterine growth retardation

Head And Neck- Teeth:
natal teeth

Respiratory- Lung:
pulmonary hypoplasia
interstitial fibrosis
atelectatic lungs

Chest- Breasts:
widely spaced nipples
hypoplastic nipples

Head And Neck- Head:
large head
high, bulging forehead

Genitourinary- Kidneys:
hypoplastic kidneys
cystic kidneys

Cardiovascular- Heart:
ventricular septal defect
patent foramen ovale

Neurologic- Central Nervous System:
hydrocephaly
anencephaly
holoprosencephaly
hypothalamic hamartomas

Respiratory:
respiratory insufficiency

Chest- External Features:
narrow thorax
short thorax

Skeletal- Feet:
short feet
broad feet
marked brachydactyly

Skeletal- Spine:
thoracic lordosis
delayed vertebral body ossification, mild

Chest- Diaphragm:
high diaphragm

Abdomen- Spleen:
enlarged and edematous spleen

Skeletal- Hands:
short hands
broad hands
marked brachydactyly

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

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

Cardiovascular- Vascular:
patent ductus arteriosus
transposition of the great vessels

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

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

Head And Neck- Neck:
short neck
nuchal edema

Abdomen- External Features:
inguinal hernia
omphalocele
protuberant abdomen

Prenatal Manifestations:
hydrops

Skeletal- Limbs:
short limbs
short long bones
limbs fixed in external rotation
bowed femora, mild
bowing of radius, marked
more
Head And Neck- Face:
flat face

Abdomen:
ascites

Abdomen- Gastroin testinal:
malrotation

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:

32 (show top 50) (show all 54)
id Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 HP:0002240
2 splenomegaly 32 HP:0001744
3 high forehead 32 HP:0000348
4 hydrocephalus 32 HP:0000238
5 low-set ears 32 HP:0000369
6 ambiguous genitalia 32 HP:0000062
7 hypertelorism 32 HP:0000316
8 intrauterine growth retardation 32 HP:0001511
9 patent ductus arteriosus 32 HP:0001643
10 pulmonary hypoplasia 32 HP:0002089
11 polyhydramnios 32 HP:0001561
12 posteriorly rotated ears 32 HP:0000358
13 short ribs 32 HP:0000773
14 short neck 32 HP:0000470
15 narrow chest 32 HP:0000774
16 hypoplastic scapulae 32 HP:0000882
17 macrocephaly 32 HP:0000256
18 inguinal hernia 32 HP:0000023
19 ventricular septal defect 32 HP:0001629
20 patent foramen ovale 32 HP:0001655
21 omphalocele 32 HP:0001539
22 protuberant abdomen 32 HP:0001538
23 anencephaly 32 HP:0002323
24 respiratory insufficiency 32 HP:0002093
25 renal hypoplasia 32 HP:0000089
26 flat face 32 HP:0012368
27 edema 32 HP:0000969
28 intestinal malrotation 32 HP:0002566
29 lobulated tongue 32 HP:0000180
30 holoprosencephaly 32 HP:0001360
31 hypoplastic nipples 32 HP:0002557
32 horizontal ribs 32 HP:0000888
33 epicanthus 32 HP:0000286
34 atelectasis 32 HP:0100750
35 ascites 32 HP:0001541
36 periportal fibrosis 32 HP:0001405
37 cystic renal dysplasia 32 HP:0000800
38 bowing of the legs 32 HP:0002979
39 short thorax 32 HP:0010306
40 thoracic dysplasia 32 HP:0006644
41 short palm 32 HP:0004279
42 short long bone 32 HP:0003026
43 short foot 32 HP:0001773
44 wide intermamillary distance 32 HP:0006610
45 short toe 32 HP:0001831
46 abnormality of the pinna 32 HP:0000377
47 short finger 32 HP:0009381
48 median cleft lip and palate 32 HP:0008501
49 broad foot 32 HP:0001769
50 broad palm 32 HP:0001169

UMLS symptoms related to Short-Rib Thoracic Dysplasia 12:


edema

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

Genetic tests related to Short-Rib Thoracic Dysplasia 12:

id Genetic test Affiliating Genes
1 Short Rib Polydactyly Syndrome, Beemer-Langer Type 24

Anatomical Context for Short-Rib Thoracic Dysplasia 12

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

39
Bone, Brain, Kidney, Liver, Pancreas, Heart, Eye

Publications for Short-Rib Thoracic Dysplasia 12

Variations for Short-Rib Thoracic Dysplasia 12

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

GO Terms for Short-Rib Thoracic Dysplasia 12

Sources for Short-Rib Thoracic Dysplasia 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....