Aarskog-Scott syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Aarskog syndrome
Faciodigitogenital syndrome
Faciogenital dysplasia
Number of Symptoms 74
OrphanetNr: 915
OMIM Id: 100050
305400
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA: 10067148
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.4 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with short stature
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Malformation syndrome with short stature
 -Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004792) Rectoperineal fistula 3 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
4
 (HPO:0000049) Shawl scrotum Very frequent [Orphanet] 31 / 7739
5
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
6
 (HPO:0000349) Widow's peak Frequent [Orphanet] 26 / 7739
7
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
8
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
9
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
10
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
11
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
12
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
13
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
14
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
15
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
16
 (HPO:0000684) Delayed eruption of teeth Occasional [Orphanet] 117 / 7739
17
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
18
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
19
 (HPO:0002055) Curved linear dimple below the lower lip 3 / 7739
20
 (HPO:0000327) Hypoplasia of the maxilla Occasional [Orphanet] 129 / 7739
21
 (HPO:0000175) Cleft palate 349 / 7739
22
 (HPO:0000311) Round face Occasional [Orphanet] 104 / 7739
23
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
24
 (HPO:0000484) Hyperopic astigmatism 8 / 7739
25
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
26
 (HPO:0000602) Ophthalmoplegia 56 / 7739
27
 (HPO:0000485) Megalocornea Occasional [Orphanet] 26 / 7739
28
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
29
 (HPO:0000394) Lop ear 6 / 7739
30
 (HPO:0000356) Abnormality of the outer ear Frequent [Orphanet] 85 / 7739
31
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
32
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
33
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
34
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
35
 (HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
36
 (HPO:0010886) Osteochondritis Dissecans 9 / 7739
37
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
38
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
39
 (HPO:0200055) Small hand Very frequent [Orphanet] 71 / 7739
40
 (HPO:0005190) Proximal finger joint hyperextensibility 2 / 7739
41
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
42
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
43
 (HPO:0002816) Genu recurvatum Occasional [Orphanet] 30 / 7739
44
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
45
 (HPO:0001769) Broad foot Very frequent [Orphanet] 31 / 7739
46
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
47
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
48
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
49
 (HPO:0001159) Syndactyly 140 / 7739
50
 (HPO:0001380) Ligamentous laxity 8 / 7739
51
 (HPO:0000765) Abnormality of the thorax 64 / 7739
52
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
53
 (HPO:0003318) Cervical spine hypermobility 3 / 7739
54
 (HPO:0009466) Radial deviation of finger 101 / 7739
55
 (HPO:0001763) Pes planus Occasional [Orphanet] 176 / 7739
56
 (HPO:0001155) Abnormality of the hand Very frequent [Orphanet] 54 / 7739
57
 (HPO:0001371) Flexion contracture 220 / 7739
58
 (HPO:0002240) Hepatomegaly 467 / 7739
59
 (HPO:0002023) Anal atresia 135 / 7739
60
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
61
 (HPO:0001394) Cirrhosis 102 / 7739
62
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
63
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
64
 (HPO:0003502) Mild short stature 19 / 7739
65
 (HPO:0000974) Hyperextensible skin Frequent [Orphanet] 59 / 7739
66
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
67
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
68
 (HPO:0001972) Macrocytic anemia 26 / 7739
69
 (HPO:0001004) Lymphedema 62 / 7739
70
 (HPO:0006530) Interstitial pulmonary disease 26 / 7739
71
 (HPO:0001417) X-linked inheritance 173 / 7739
72
 (HPO:0030084) Clinodactyly 90 / 7739
73
 (HPO:0001470) Sex-limited autosomal dominant 7 / 7739
74
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: