Camptodactyly syndrome, Guadalajara type 1

General Information (adopted from Orphanet):

Synonyms, Signs: FACIOTHORACOSKELETAL SYNDROME
GCS1
FTSS
Number of Symptoms 84
OrphanetNr: 1327
OMIM Id: 211910
ICD-10: Q87.1
UMLs: C2931679
MeSH: C537970
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
4
 (HPO:0005456) Absent ethmoidal sinuses 1 / 7739
5
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
6
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
7
 (HPO:0000664) Synophrys Occasional [Orphanet] 112 / 7739
8
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
9
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
10
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
11
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
12
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
13
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
14
 (HPO:0002645) Wormian bones 65 / 7739
15
 (HPO:0002553) Highly arched eyebrow Occasional [Orphanet] 92 / 7739
16
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
17
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
18
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
19
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
20
 (HPO:0002688) Absent frontal sinuses 12 / 7739
21
 (HPO:0000272) Malar flattening 277 / 7739
22
 (HPO:0000276) Long face Occasional [Orphanet] 109 / 7739
23
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
24
 (HPO:0000218) High palate 356 / 7739
25
 (HPO:0002714) Downturned corners of mouth Frequent [Orphanet] 98 / 7739
26
 (HPO:0000193) Bifid uvula 66 / 7739
27
 (HPO:0000689) Dental malocclusion Very frequent [Orphanet] 114 / 7739
28
 (HPO:0000472) Long neck 8 / 7739
29
 (HPO:0009891) Underdeveloped supraorbital ridges Frequent [Orphanet] 36 / 7739
30
 (HPO:0000275) Narrow face Frequent [Orphanet] 76 / 7739
31
 (HPO:0006292) Abnormality of dental eruption 1 / 7739
32
 (HPO:0000482) Microcornea Frequent [Orphanet] 102 / 7739
33
 (HPO:0008551) Microtia 98 / 7739
34
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
35
 (HPO:0000369) Low-set ears 372 / 7739
36
 (HPO:0000385) Small earlobe 9 / 7739
37
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
38
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
39
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
40
 (HPO:0004453) Overfolding of the superior helices 5 / 7739
41
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
42
 (HPO:0001249) Intellectual disability 1089 / 7739
43
 (HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
44
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
45
 (HPO:0010743) Short metatarsal 56 / 7739
46
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
47
 (HPO:0000768) Pectus carinatum Very frequent [Orphanet] 136 / 7739
48
 (HPO:0003298) Spina bifida occulta 67 / 7739
49
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
50
 (HPO:0004686) Short third metatarsal 9 / 7739
51
 (HPO:0100864) Short femoral neck 36 / 7739
52
 (HPO:0002967) Cubitus valgus Frequent [Orphanet] 49 / 7739
53
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
54
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
55
 (HPO:0008424) Hypoplastic 5th lumbar vertebrae 1 / 7739
56
 (HPO:0003440) Horizontal sacrum 5 / 7739
57
 (HPO:0000912) Sprengel anomaly Frequent [Orphanet] 51 / 7739
58
 (HPO:0001215) Camptodactyly of 2nd-5th fingers 8 / 7739
59
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
60
 (HPO:0006166) Tubular metacarpal bones 1 / 7739
61
 (HPO:0009882) Short distal phalanx of finger Occasional [Orphanet] 125 / 7739
62
 (HPO:0003038) Fibular hypoplasia 30 / 7739
63
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
64
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
65
 (HPO:0002414) Spina bifida Frequent [Orphanet] 47 / 7739
66
 (HPO:0001159) Syndactyly 140 / 7739
67
 (HPO:0000960) Sacral dimple 29 / 7739
68
 (HPO:0001822) Hallux valgus Frequent [Orphanet] 70 / 7739
69
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
70
 (HPO:0006668) Twelfth rib hypoplasia 1 / 7739
71
 (HPO:0003691) Scapular winging 51 / 7739
72
 (HPO:0001773) Short foot 86 / 7739
73
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
74
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
75
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
76
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
77
 (HPO:0000995) Melanocytic nevus Frequent [Orphanet] 63 / 7739
78
 (OMIM) Downslanting ribs 1 / 7739
79
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
80
 (HPO:0012745) Short palpebral fissure 47 / 7739
81
 (OMIM) Small, downturned mouth 1 / 7739
82
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
83
 (MedDRA:10072883) Brachydactyly 153 / 7739
84
 (OMIM) Absent frontal and ethmoidal sinuses 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: