AARSKOG-SCOTT SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: FACIODIGITOGENITAL SYNDROME
MRXS16, INCLUDED
FACIOGENITAL DYSPLASIA
MENTAL RETARDATION, X-LINKED, SYNDROMIC 16, INCLUDED
AARSKOG SYNDROME, X-LINKED FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER, INCLUDED
FGDY
AAS
Number of Symptoms 53
OrphanetNr:
OMIM Id: 305400
ICD-10:
UMLs:
MeSH:
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: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000049) Shawl scrotum 31 / 7739
3
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
4
 (HPO:0000431) Wide nasal bridge 290 / 7739
5
 (HPO:0000470) Short neck 345 / 7739
6
 (HPO:0000349) Widow's peak 26 / 7739
7
 (HPO:0000668) Hypodontia 81 / 7739
8
 (HPO:0000463) Anteverted nares 305 / 7739
9
 (HPO:0003196) Short nose 264 / 7739
10
 (HPO:0000316) Hypertelorism 644 / 7739
11
 (HPO:0000175) Cleft palate 349 / 7739
12
 (HPO:0000311) Round face 104 / 7739
13
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
14
 (HPO:0000204) Cleft upper lip 193 / 7739
15
 (HPO:0000289) Broad philtrum 11 / 7739
16
 (HPO:0002055) Curved linear dimple below the lower lip 3 / 7739
17
 (HPO:0000540) Hypermetropia 99 / 7739
18
 (HPO:0000486) Strabismus 576 / 7739
19
 (HPO:0000508) Ptosis 459 / 7739
20
 (HPO:0009748) Large earlobe 27 / 7739
21
 (HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
22
 (HPO:0000752) Hyperactivity 140 / 7739
23
 (HPO:0001249) Intellectual disability 1089 / 7739
24
 (HPO:0000823) Delayed puberty 65 / 7739
25
 (HPO:0003318) Cervical spine hypermobility 3 / 7739
26
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
27
 (HPO:0001159) Syndactyly 140 / 7739
28
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
29
 (HPO:0006158) Finger joint hyperextensibility 1 / 7739
30
 (HPO:0001169) Broad palm 43 / 7739
31
 (HPO:0004279) Short palm 323 / 7739
32
 (HPO:0002650) Scoliosis 705 / 7739
33
 (HPO:0000767) Pectus excavatum 244 / 7739
34
 (HPO:0001187) Hyperextensibility of the finger joints 12 / 7739
35
 (HPO:0000954) Single transverse palmar crease 162 / 7739
36
 (HPO:0001773) Short foot 86 / 7739
37
 (HPO:0001769) Broad foot 31 / 7739
38
 (HPO:0009466) Radial deviation of finger 101 / 7739
39
 (HPO:0001544) Prominent umbilicus 4 / 7739
40
 (HPO:0000023) Inguinal hernia 181 / 7739
41
 (HPO:0001508) Failure to thrive 454 / 7739
42
 (HPO:0001507) Growth abnormality 36 / 7739
43
 (HPO:0003502) Mild short stature 19 / 7739
44
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
45
 (MedDRA:10072883) Brachydactyly 153 / 7739
46
 (OMIM) Broad, short hands 14 / 7739
47
 (OMIM) Mild to moderate short stature 7 / 7739
48
 (HPO:0012774) Increased upper to lower segment ratio 1 / 7739
49
 (OMIM) Short neck with or without webbing 1 / 7739
50
 (MedDRA:10058668) Clinodactyly 91 / 7739
51
 (OMIM) Mild syndactyly 4 / 7739
52
 (HPO:0030084) Clinodactyly 90 / 7739
53
 (OMIM) Broad, short feet 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and ...
Clinical Description OMIM Aarskog (1970) described an X-linked disorder characterized by embryonic ocular hypertelorism, anteverted nostrils, broad upper lip, and peculiar penoscrotal relations ('saddle-bag scrotum' or 'shawl scrotum'). Affected males can reproduce. Scott (1971) emphasized the occurrence of ligamentous laxity manifest ...
Molecular genetics OMIM By SSCP analysis, Pasteris et al. (1994) identified a mutation (300546.0001) in the FGD1 gene in affected members of a family with Aarskog-Scott syndrome.

Orrico et al. (2000) analyzed 13 unrelated patients with the clinical diagnosis ...