Autosomal dominant popliteal pterygium syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES
FACIOGENITOPOPLITEAL SYNDROME
PPS
Popliteal web syndrome
Facio-genito-popliteal syndrome
Number of Symptoms 44
OrphanetNr: 1300
OMIM Id: 119500
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Popliteal pterygium syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndrome or malformation associated with head and neck malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndromic ankyloblepharon
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100267) Lip pit Frequent [Orphanet] 9 / 7739
2
 (HPO:0000196) Lower lip pit 4 / 7739
3
 (HPO:0009755) Ankyloblepharon 10 / 7739
4
 (HPO:0009756) Popliteal pterygium Frequent [Orphanet] 9 / 7739
5
 (HPO:0000726) Dementia 131 / 7739
6
 (HPO:0009380) Aplasia of the fingers Occasional [Orphanet] 51 / 7739
7
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
8
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
9
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
10
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
11
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
12
 (HPO:0009754) Fibrous syngnathia 1 / 7739
13
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
14
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
15
 (HPO:0003298) Spina bifida occulta 67 / 7739
16
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
17
 (HPO:0009757) Intercrural pterygium 2 / 7739
18
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
19
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
20
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
21
 (HPO:0009758) Pyramidal skinfold extending from the base to the top of the nails 1 / 7739
22
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
23
 (HPO:0000048) Bifid scrotum Frequent [Orphanet] 36 / 7739
24
 (HPO:0000046) Scrotal hypoplasia Frequent [Orphanet] 54 / 7739
25
 (HPO:0000028) Cryptorchidism 347 / 7739
26
 (HPO:0000062) Ambiguous genitalia Occasional [Orphanet] 74 / 7739
27
 (HPO:0000013) Hypoplasia of the uterus 21 / 7739
28
 (HPO:0008726) Hypoplasia of the vagina 4 / 7739
29
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
30
 (HPO:0010285) Oral synechia Frequent [Orphanet] 31 / 7739
31
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
32
 (HPO:0000175) Cleft palate 349 / 7739
33
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
34
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
35
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
36
 (HPO:0000315) Abnormality of the orbital region Frequent [Orphanet] 18 / 7739
37
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
38
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
39
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
40
 (OMIM) Congenital ankyloblepharon filiforme 1 / 7739
41
 (OMIM) Lower lip cysts 1 / 7739
42
 (OMIM) Pyramidal skinfold of halluces 1 / 7739
43
 (OMIM) Unusual distribution of pubic hair with extension to inner aspect of thigh 1 / 7739
44
 (OMIM) Variable skin syndactyly fingers and toes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lewis (1948) described brother and sister with cleft palate and webbing of the lower limbs whose father had harelip and cleft palate. The webbing extended from the region of the ischial tuberosities to the heels. Surgeons must be ...
Molecular genetics OMIM Kondo et al. (2002) carried out direct sequence analysis of genes and presumptive transcripts in the critical region for popliteal pterygium syndrome and van der Woude syndrome (VWS1; 119300) identified by linkage analysis on 1q32. They detected mutations ...