TARP syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT
TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCE OF LEFT SUPERIOR VENA CAVA
TARPS
Pierre Robin syndrome - congenital heart defect - talipes
Pierre Robin sequence - congenital heart defect - talipes
Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava
Number of Symptoms 41
OrphanetNr: 2886
OMIM Id: 311900
ICD-10: Q87.8
UMLs: C1839463
MeSH: C536942
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndromic Pierre Robin syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Rare syndrome with cardiac malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic Pierre Robin syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000085) Horseshoe kidney 39 / 7739
3
 (HPO:0000126) Hydronephrosis 119 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0000463) Anteverted nares 305 / 7739
6
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
7
 (HPO:0000431) Wide nasal bridge 290 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
10
 (HPO:0000218) High palate 356 / 7739
11
 (HPO:0009891) Underdeveloped supraorbital ridges 36 / 7739
12
 (HPO:0000199) Tongue nodules rare [HPO:skoehler] 5 / 7739
13
 (HPO:0000239) Large fontanelles 135 / 7739
14
 (HPO:0000162) Glossoptosis Very frequent [Orphanet] 26 / 7739
15
 (HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
16
 (HPO:0000369) Low-set ears 372 / 7739
17
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
18
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
19
 (HPO:0008551) Microtia 98 / 7739
20
 (HPO:0000395) Prominent antihelix 6 / 7739
21
 (HPO:0001263) Global developmental delay 853 / 7739
22
 (HPO:0000879) Short sternum rare [HPO:skoehler] 16 / 7739
23
 (HPO:0001762) Talipes equinovarus 309 / 7739
24
 (HPO:0000954) Single transverse palmar crease 162 / 7739
25
 (HPO:0100259) Postaxial polydactyly rare [HPO:skoehler] 85 / 7739
26
 (HPO:0006191) Deep palmar crease 16 / 7739
27
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
28
 (HPO:0001508) Failure to thrive 454 / 7739
29
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
30
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
31
 (HPO:0001631) Atria septal defect Very frequent [Orphanet] 274 / 7739
32
 (HPO:0100026) Arteriovenous malformation Very frequent [Orphanet] 38 / 7739
33
 (HPO:0001636) Tetralogy of Fallot rare [HPO:skoehler] 104 / 7739
34
 (HPO:0001252) Muscular hypotonia 990 / 7739
35
 (HPO:0001417) X-linked inheritance 173 / 7739
36
 (HPO:0012725) Cutaneous syndactyly 2 / 7739
37
 (HPO:0030084) Clinodactyly 90 / 7739
38
 (HPO:0001273) Abnormality of the corpus callosum 20 / 7739
39
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
40
 (HPO:0012745) Short palpebral fissure 47 / 7739
41
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gorlin et al. (1970) described a kindred in which multiple males, related through normal females, had Pierre Robin syndrome with congenital heart malformation and clubfoot. Other possible reports of the syndrome were noted; e.g., Sachtleben (1964) reported 2 ...
Molecular genetics OMIM Using massively parallel sequencing of X chromosome exons and screening of sequence data with successive filtering criteria, Johnston et al. (2010) identified a frameshift and a nonsense mutation in the RBM10 gene (300080.0001 and 300080.0002, respectively) in affected ...