Aarskog-Scott Syndrome (AAS) malady

NIH Rare Diseases:⁴² Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. intellectual development may also be affected. about 20 percent of people with aarskog-scott syndrome have mutations in the fgd1 gene. the cause in other affected individuals is unknown. the condition is inherited in an x-linked recessive pattern. last updated: 9/7/2011

MalaCards based summary: Aarskog-Scott Syndrome, also known as aarskog syndrome, is related to b-cell lymphomas and leukemia, and has symptoms including shawl scrotum, everted lower lip vermilion and hypertelorism. An important gene associated with Aarskog-Scott Syndrome is FGD1 (FYVE, RhoGEF and PH domain containing 1), and among its related pathways are EGFR1 Signaling Pathway and Cytoskeletal Signaling. The compounds Guanosine monophosphate and Guanosine diphosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes.

Disease Ontology:⁹ A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face.

Genetics Home Reference:²² Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome.

OMIM:⁴⁶ Aarskog syndrome is characterized by short stature and facial, limb, and genital anomalies. One form of the disorder is... (100050) more...

Description from OMIM:⁴⁶ 305400

External Ids:

Disease Ontology9 DOID:6683 OMIM46 100050, 305400 MeSH34 C535331 SNOMED-CT56 205809002, 14921002

ICD10 via Orphanet27 Q87.1 UMLS via Orphanet62 C0175701 UMLS61 C0175701

Symptoms by clinical synopsis from OMIM:

100050

Clinical features from OMIM:

100050,305400

Symptoms:

 ⁴⁸ (show all 49)

hypertelorism everted lower lip umbilical hernia anomalies of hands short hand/brachydactyly small hand/acromicria camptodactyly of some fingers short foot/brachydactyly of toes broad foot shawl scrotum x-linked recessive inheritance short stature/dwarfism/nanism broad forehead downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures ptosis broad nasal root anteverted nares/nostrils long philtrum external ear anomalies low set ears/posteriorly rotated ears inguinal/inguinoscrotal/crural hernia syndactyly of fingers/interdigital palm clinodactyly of fifth finger hyperelastic skin/cutaneous hyperlaxity high hair line (front)/widow peak

undescended/ectopic testes/cryptorchidia/unfixed testes intellectual deficit/mental/psychomotor retardation/learning disability hyperextensible joints/articular hyperlaxity round face hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia megalocornea strabismus/squint epicanthic folds cleft lip cleft lip and palate cleft palate without cleft lip/submucosal cleft palate/bifid uvula anomalies of teeth and dentition delayed dentition/eruption of teeth/lack of eruption of teeth short neck pectus excavatum anomalies of spine, vertebrae and pelvis simian crease/transverse/unique palmar crease genu recurvatum talipes-varus/metatarsal varus flat foot congenital cardiac anomaly/malformation/cardiopathy heart/cardiac failure hyperactivity/attention deficit psychic/behavioural troubles

HPO human phenotypes related to Aarskog-Scott Syndrome:

(show all 126)

id	Description	Frequency	HPO Source Accession
1	shawl scrotum	hallmark (90%)	HP:0000049
2	everted lower lip vermilion	hallmark (90%)	HP:0000232
3	hypertelorism	hallmark (90%)	HP:0000316
4	brachydactyly syndrome	hallmark (90%)	HP:0001156
5	umbilical hernia	hallmark (90%)	HP:0001537
6	broad foot	hallmark (90%)	HP:0001769
7	short toe	hallmark (90%)	HP:0001831
8	short palm	hallmark (90%)	HP:0004279
9	short stature	hallmark (90%)	HP:0004322
10	camptodactyly of finger	hallmark (90%)	HP:0100490
11	cryptorchidism	typical (50%)	HP:0000028
12	broad forehead	typical (50%)	HP:0000337
13	long philtrum	typical (50%)	HP:0000343
14	low-set, posteriorly rotated ears	typical (50%)	HP:0000368
15	wide nasal bridge	typical (50%)	HP:0000431
16	anteverted nares	typical (50%)	HP:0000463
17	downslanted palpebral fissures	typical (50%)	HP:0000494
18	ptosis	typical (50%)	HP:0000508
19	hyperextensible skin	typical (50%)	HP:0000974
20	joint hypermobility	typical (50%)	HP:0001382
21	clinodactyly of the 5th finger	typical (50%)	HP:0004209
22	finger syndactyly	typical (50%)	HP:0006101
23	external ear malformation	typical (50%)	HP:0008572
24	high anterior hairline	typical (50%)	HP:0009890
25	cognitive impairment	typical (50%)	HP:0100543
26	cleft palate	occasional (7.5%)	HP:0000175
27	cleft upper lip	occasional (7.5%)	HP:0000204
28	epicanthus	occasional (7.5%)	HP:0000286
29	round face	occasional (7.5%)	HP:0000311
30	short neck	occasional (7.5%)	HP:0000470
31	megalocornea	occasional (7.5%)	HP:0000485
32	strabismus	occasional (7.5%)	HP:0000486
33	delayed eruption of teeth	occasional (7.5%)	HP:0000684
34	pectus excavatum	occasional (7.5%)	HP:0000767
35	single transverse palmar crease	occasional (7.5%)	HP:0000954
36	congestive heart failure	occasional (7.5%)	HP:0001635
37	pes planus	occasional (7.5%)	HP:0001763
38	talipes	occasional (7.5%)	HP:0001883
39	malformation of the heart and great vessels	occasional (7.5%)	HP:0002564
40	genu recurvatum	occasional (7.5%)	HP:0002816
41	attention deficit hyperactivity disorder	occasional (7.5%)	HP:0007018
42	cryptorchidism		HP:0000028
43	shawl scrotum		HP:0000049
44	cleft palate		HP:0000175
45	oral cleft		HP:0000202
46	cleft upper lip		HP:0000204
47	hypertelorism		HP:0000316
48	hypoplasia of the maxilla		HP:0000327
49	long philtrum		HP:0000343
50	widow's peak		HP:0000349
51	lop ear		HP:0000394
52	wide nasal bridge		HP:0000431
53	anteverted nares		HP:0000463
54	hyperopic astigmatism		HP:0000484
55	strabismus		HP:0000486
56	downslanted palpebral fissures		HP:0000494
57	ptosis		HP:0000508
58	ophthalmoplegia		HP:0000602
59	abnormality of the thorax		HP:0000765
60	single transverse palmar crease		HP:0000954
61	hyperextensible skin		HP:0000974
62	lymphedema		HP:0001004
63	brachydactyly syndrome		HP:0001156
64	syndactyly		HP:0001159
65	flexion contracture		HP:0001371
66	ligamentous laxity		HP:0001380
67	cirrhosis		HP:0001394
68	x-linked inheritance		HP:0001417
69	sex-limited autosomal dominant		HP:0001470
70	pes planus		HP:0001763
71	macrocytic anemia		HP:0001972
72	anal atresia		HP:0002023
73	curved linear dimple below the lower lip		HP:0002055
74	hepatomegaly		HP:0002240
75	genu recurvatum		HP:0002816
76	cervical spine hypermobility		HP:0003318
77	mild short stature		HP:0003502
78	rectoperineal fistula		HP:0004792
79	proximal finger joint hyperextensibility		HP:0005190
80	interstitial pulmonary disease		HP:0006530
81	radial deviation of finger		HP:0009466
82	osteochondrosis dissecans		HP:0010886
83	clinodactyly		HP:0030084
84	inguinal hernia		HP:0000023
85	cryptorchidism		HP:0000028
86	shawl scrotum		HP:0000049
87	cleft palate		HP:0000175
88	cleft upper lip		HP:0000204
89	broad philtrum		HP:0000289
90	round face		HP:0000311
91	hypertelorism		HP:0000316
92	hypoplasia of the maxilla		HP:0000327
93	widow's peak		HP:0000349
94	wide nasal bridge		HP:0000431
95	anteverted nares		HP:0000463
96	short neck		HP:0000470
97	strabismus		HP:0000486
98	downslanted palpebral fissures		HP:0000494
99	ptosis		HP:0000508
100	hypermetropia		HP:0000540
101	hypodontia		HP:0000668
102	pectus excavatum		HP:0000767
103	delayed puberty		HP:0000823
104	single transverse palmar crease		HP:0000954
105	brachydactyly syndrome		HP:0001156
106	syndactyly		HP:0001159
107	broad palm		HP:0001169
108	intellectual disability		HP:0001249
109	x-linked recessive inheritance		HP:0001419
110	failure to thrive		HP:0001508
111	prominent umbilicus		HP:0001544
112	broad foot		HP:0001769
113	short foot		HP:0001773
114	curved linear dimple below the lower lip		HP:0002055
115	scoliosis		HP:0002650
116	short nose		HP:0003196
117	hypoplasia of the odontoid process		HP:0003311
118	cervical spine hypermobility		HP:0003318
119	mild short stature		HP:0003502
120	short palm		HP:0004279
121	finger joint hyperextensibility		HP:0006158
122	attention deficit hyperactivity disorder		HP:0007018
123	radial deviation of finger		HP:0009466
124	large earlobe		HP:0009748
125	increased upper to lower segment ratio		HP:0012774
126	clinodactyly		HP:0030084

Search GEO for disease gene expression data for Aarskog-Scott Syndrome.