Short rib-polydactyly syndrome, Beemer-Langer type

General Information (adopted from Orphanet):

Synonyms, Signs: SRPS IV
SHORT RIB SYNDROME, BEEMER TYPE
BEEMER-LANGER SYNDROME
SRPS4
Short rib-polydactyly syndrome type 4
Number of Symptoms 66
OrphanetNr: 93268
OMIM Id: 269860
ICD-10: Q77.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Short rib-polydactyly syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0000062) Ambiguous genitalia 74 / 7739
2
 (HPO:0000800) Cystic renal dysplasia 31 / 7739
3
 (HPO:0008702) Absent internal genitalia 1 / 7739
4
 (HPO:0000089) Renal hypoplasia 78 / 7739
5
 (HPO:0000316) Hypertelorism 644 / 7739
6
 (HPO:0012368) Flat face 106 / 7739
7
 (HPO:0000180) Lobulated tongue 8 / 7739
8
 (HPO:0000348) High forehead 157 / 7739
9
 (HPO:0000528) Anophthalmia 42 / 7739
10
 (HPO:0011802) Hamartoma of tongue 4 / 7739
11
 (HPO:0000695) Natal tooth 42 / 7739
12
 (HPO:0008501) Median cleft lip and palate 7 / 7739
13
 (HPO:0000286) Epicanthus 371 / 7739
14
 (HPO:0000470) Short neck 345 / 7739
15
 (HPO:0000256) Macrocephaly 298 / 7739
16
 (HPO:0000369) Low-set ears 372 / 7739
17
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
18
 (HPO:0000377) Abnormality of the pinna 111 / 7739
19
 (HPO:0006610) Wide intermamillary distance 46 / 7739
20
 (HPO:0002557) Hypoplastic nipples 33 / 7739
21
 (HPO:0006488) Bowing of the arm 2 / 7739
22
 (HPO:0000774) Narrow chest 167 / 7739
23
 (HPO:0000954) Single transverse palmar crease 162 / 7739
24
 (HPO:0001769) Broad foot 31 / 7739
25
 (HPO:0004279) Short palm 323 / 7739
26
 (HPO:0000773) Short ribs 70 / 7739
27
 (HPO:0001169) Broad palm 43 / 7739
28
 (HPO:0006644) Thoracic dysplasia 12 / 7739
29
 (HPO:0010306) Short thorax 10 / 7739
30
 (HPO:0002979) Bowing of the legs 28 / 7739
31
 (HPO:0001773) Short foot 86 / 7739
32
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
33
 (HPO:0000888) Horizontal ribs 12 / 7739
34
 (HPO:0003026) Short long bone 51 / 7739
35
 (HPO:0001831) Short toe 52 / 7739
36
 (HPO:0009381) Short finger 45 / 7739
37
 (HPO:0009826) Limb undergrowth 8 / 7739
38
 (HPO:0001561) Polyhydramnios 191 / 7739
39
 (HPO:0001195) Single umbilical artery 23 / 7739
40
 (HPO:0001744) Splenomegaly 337 / 7739
41
 (HPO:0001737) Pancreatic cysts 15 / 7739
42
 (HPO:0001539) Omphalocele 102 / 7739
43
 (HPO:0001538) Protuberant abdomen 36 / 7739
44
 (HPO:0001405) Periportal fibrosis 5 / 7739
45
 (HPO:0002240) Hepatomegaly 467 / 7739
46
 (HPO:0005209) Intrahepatic bile duct cysts 1 / 7739
47
 (HPO:0001541) Ascites 94 / 7739
48
 (HPO:0002566) Intestinal malrotation 89 / 7739
49
 (HPO:0000023) Inguinal hernia 181 / 7739
50
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
51
 (HPO:0001629) Ventricular septal defect 316 / 7739
52
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
53
 (HPO:0001655) Patent foramen ovale 31 / 7739
54
 (HPO:0000969) Edema 117 / 7739
55
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
56
 (HPO:0100750) Atelectasis 17 / 7739
57
 (HPO:0002093) Respiratory insufficiency 410 / 7739
58
 (OMIM) Intracranial malformations 1 / 7739
59
 (OMIM) Accessory frenulum 1 / 7739
60
 (HPO:0003811) Neonatal death 44 / 7739
61
 (HPO:0000238) Hydrocephalus 278 / 7739
62
 (HPO:0002323) Anencephaly 28 / 7739
63
 (HPO:0001360) Holoprosencephaly 29 / 7739
64
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
65
 (OMIM) Short, bowed limbs 2 / 7739
66
 (OMIM) Periportal hepatic fibrosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Short rib-polydactyly syndromes (SRPS) constitute a group of autosomal recessive disorders characterized by short limb dwarfism and complicated by thoracic hypoplasia (short ribs), polydactyly, and different anomalies of major organs. SRPS type IV may be distinguished from the ...
Clinical Description OMIM Beemer et al. (1983) reported a 'new' short rib syndrome in 2 unrelated infants who died shortly after birth. Features were hydrops, ascites, median cleft of the upper lip, narrow chest and short, bowed limbs. Evidence of autosomal ...
Molecular genetics OMIM - Exclusion Studies

In 7 patients with type IV short rib-polydactyly syndrome, El Hokayem et al. (2012) excluded mutations in the NEK1 (604588) and DYNC2H1 (603297) genes.