Bartsocas-Papas syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE
PTERYGIUM, POPLITEAL, LETHAL TYPE
BARTSOCAS-PAPAS SYNDROME
BPS
Lethal popliteal pterygium syndrome
Autosomal recessive popliteal pterygium syndrome
Number of Symptoms 75
OrphanetNr: 1234
OMIM Id: 263650
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 24 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic multiple congenital anomalies/dysmorphic syndrome
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome
 -Rare developmental defect during embryogenesis
Popliteal pterygium syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
2
 (HPO:0000078) Abnormality of the genital system Very frequent [Orphanet] 33 / 7739
3
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
4
 (HPO:0000050) Hypoplastic male external genitalia rare [HPO:skoehler] 10 / 7739
5
 (HPO:0008689) Bilateral cryptorchidism rare [HPO:skoehler] 38 / 7739
6
 (HPO:0000062) Ambiguous genitalia 74 / 7739
7
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
8
 (HPO:0002223) Absent eyebrow 21 / 7739
9
 (HPO:0011478) True anophthalmia 17 / 7739
10
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
11
 (HPO:0000202) Oral cleft Very frequent [Orphanet] 120 / 7739
12
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
13
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
14
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
15
 (HPO:0000528) Anophthalmia 42 / 7739
16
 (HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
17
 (HPO:0000561) Absent eyelashes 18 / 7739
18
 (HPO:0000204) Cleft upper lip 193 / 7739
19
 (HPO:0000327) Hypoplasia of the maxilla rare [HPO:skoehler] 129 / 7739
20
 (HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
21
 (HPO:0009755) Ankyloblepharon 10 / 7739
22
 (HPO:0000175) Cleft palate 349 / 7739
23
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
24
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
25
 (HPO:0002006) Facial cleft 25 / 7739
26
 (HPO:0000161) Median cleft lip Very frequent [Orphanet] 27 / 7739
27
 (HPO:0000315) Abnormality of the orbital region Very frequent [Orphanet] 18 / 7739
28
 (HPO:0000625) Cleft eyelid Frequent [Orphanet] 31 / 7739
29
 (HPO:0000347) Micrognathia rare [HPO:skoehler] 426 / 7739
30
 (HPO:0000316) Hypertelorism rare [HPO:skoehler] 644 / 7739
31
 (HPO:0007759) Opacification of the corneal stroma rare [HPO:skoehler] 77 / 7739
32
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
33
 (HPO:0000369) Low-set ears 372 / 7739
34
 (HPO:0000378) Cupped ear rare [HPO:skoehler] 34 / 7739
35
 (HPO:0006610) Wide intermamillary distance rare [HPO:skoehler] 46 / 7739
36
 (HPO:0009803) Short phalanx of finger 79 / 7739
37
 (HPO:0009756) Popliteal pterygium Very frequent [Orphanet] 9 / 7739
38
 (HPO:0000882) Hypoplastic scapulae rare [HPO:skoehler] 28 / 7739
39
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
40
 (HPO:0011305) Partial absence of toe Very frequent [Orphanet] 18 / 7739
41
 (HPO:0009777) Absent thumb 31 / 7739
42
 (HPO:0001762) Talipes equinovarus Very frequent [Orphanet] 309 / 7739
43
 (HPO:0100240) Synostosis of joints Very frequent [Orphanet] 11 / 7739
44
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
45
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
46
 (HPO:0001159) Syndactyly 140 / 7739
47
 (HPO:0002025) Anal stenosis 23 / 7739
48
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
49
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
50
 (HPO:0007418) Alopecia totalis rare [HPO:skoehler] 6 / 7739
51
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
52
 (HPO:0001792) Small nail 55 / 7739
53
 (HPO:0001798) Anonychia 28 / 7739
54
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
55
 (OMIM) Low-set umbilicus (in some patients) 1 / 7739
56
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
57
 (OMIM) Skin tags on genitalia (in some patients) 1 / 7739
58
 (OMIM) Hypoplasia of iliac wing (in some patients) 2 / 7739
59
 (OMIM) Filiform bands between mandible and maxilla 1 / 7739
60
 (OMIM) Pterygium of wrist, bilateral (in some patients) 1 / 7739
61
 (OMIM) Axillary pterygium, bilateral (in some patients) 1 / 7739
62
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
63
 (OMIM) Pterygium of bilateral (in some patients) 1 / 7739
64
 (OMIM) Popliteal pterygium, bilateral 1 / 7739
65
 (OMIM) Skin tags on chest 1 / 7739
66
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
67
 (OMIM) Oligosyndactyly of toes 1 / 7739
68
 (OMIM) Inguinal pterygium, bilateral (in some patients) 1 / 7739
69
 (OMIM) Pterygium of elbow, bilateral (in some patients) 1 / 7739
70
 (OMIM) Skin tags on palms (in some patients) 1 / 7739
71
 (OMIM) Ankyloblepharon filiforme 2 / 7739
72
 (OMIM) Absent clitoris (in some patients) 1 / 7739
73
 (OMIM) Bony synostosis 1 / 7739
74
 (OMIM) Asymmetric nipples (in some patients) 1 / 7739
75
 (OMIM) Medial canthal webbing (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Bartsocas-Papas syndrome (lethal popliteal pterygium syndrome) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond ...
Clinical Description OMIM Bartsocas and Papas (1972) reported a family in which the parents were third cousins and 4 sibs were severely affected. In addition to marked popliteal pterygium with a cord containing nerves and vessels, synostosis of hand and foot ...
Molecular genetics OMIM In a 6-year-old boy with features consistent with Bartsocas-Papas syndrome who was born of consanguineous parents, Mitchell et al. (2012) performed exome sequencing and identified homozygosity for a nonsense mutation in the RIPK4 gene (S376X; 605706.0001), located within ...