Aarskog-Scott syndrome

A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.



Input patient's signs and symptoms


Narrow down the case reports



Total: 43 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(66.9%)		 6344635
 Autosomal dominant inheritance of the Aarskog syndrome.
Grier RE, Farrington FH, Kendig R, Mamunes P.
Am J Med Genet. 1983;15(1):39-46.
Round face Short finger
Adult Body Height Child, Preschool Face Genes, Dominant Homo sapiens Male Scrotum Syndrome
2
(64.9%)		 26111080
 Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.
Bhoj EJ, Li D, Harr MH, Tian L, Wang T, Zhao Y, Qiu H, Kim C, Hoffman JD, Hakonarson H, Zackai EH.
Am J Med Genet A. 2015;167A(11):2497-502.
Natal tooth Small hand
SPECC1L
c|DEL|1198_1203|ATACAC c|SUB|G|1260|C p|DEL|400,401|H p|SUB|E|420|D;RS#:755829276
Base Sequence Child Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Craniofacial Abnormalities DNA Mutational Analysis Facies Family Homo sapiens Infant Infant, Newborn Male Molecular Sequence Data Mutation Phenotype Phosphoproteins
3
(63.5%)		 669698
 The Aarskog syndrome.
Fryns JP, Macken J, Vinken L, Igodt-Ameye L, van den Berghe H.
Hum Genet. 1978;42(2):129-35.
Round face Small hand
Craniofacial Dysostosis Face Females Growth Disorders Homo sapiens Limb Deformities, Congenital Male Male Genital Organs Sex Factors Syndrome
4
(56.9%)		 1127528
 The inheritance of the Aarskog facial-digital-genital syndrome.
Berman P, Desjardins C, Fraser FC.
J Pediatr. 1975;86(6):885-91.
Long philtrum Telecanthus Broad foot
SMG1
Adult Child Chromosome Aberrations Congenital Foot Deformity Congenital Hand Deformities Dermatoglyphics Face Females Genes, Recessive Heterozygote Homo sapiens Male Male Genital Organs Middle Aged Sex Chromosomes Syndrome Toes
5
(51.6%)		 7227381
 Aarskog syndrome with isolated growth hormone deficiency.
Kodama M, Fujimoto S, Namikawa T, Matsuda I.
Eur J Pediatr. 1981;135(3):273-6.
Decreased response to growth hormone stimuation test Short finger
GH1
Child, Preschool Dwarfism Fingers Growth Hormone Homo sapiens Intellectual Disability Male Scrotum Syndrome
5
(51.6%)		 6442411
 [Aarskog's syndrome. Description of a case and endocrinological study].
Saggese G, Bertelloni S, Baroncelli GI, Calisti L.
Pediatr Med Chir. 1983;5(6):613-8.
Cryptorchidism Short finger
Adult Child, Preschool Facial Expression Females Fingers Genes, Recessive Growth Hormone Homo sapiens Male Scrotum Syndrome X Chromosome
7
(35.4%)		 9497838
 Aarskog syndrome associated with hypermetropia and toe anomaly.
Caksen H, Kurtoglu S, Ciftci A, Cagil N, Gikrikci V.
S Afr Med J. 1997;87(12):1699-700.
Cryptorchidism Finger clinodactyly
Child Facies Homo sapiens Hyperopia Joint Instability Male Male Genital Organs Syndrome Toes
8
(35.3%)		 23443263
 A novel mutation in a mother and a son with Aarskog-Scott syndrome.
Altnck A, Kaname T, Demir K, Bober E.
J Pediatr Endocrinol Metab. 2013;26(3-4):385-8.
Cryptorchidism Brachydactyly
FGD1
Adult Body Height Child Congenital Hand Deformities Congenital Heart Defects Dwarfism Face Females Fingers Genetic Diseases, X-Linked Growth Disorders Guanine Nucleotide Exchange Factors Homo sapiens Male Male Genital Organs Nuclear Family Point Mutation
8
(35.3%)		 22876573
 X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype.
Verhoeven WM, Egger JI, Hoogeboom AJ.
Genet Couns. 2012;23(2):157-67.
Brachydactyly
FGD1
c|SUB|C|1204|T p|SUB|R|402|W
Adult Chromosomes, Human, X Cognition Disorders Congenital Hand Deformities Congenital Heart Defects Dwarfism Face Genetic Diseases, X-Linked Guanine Nucleotide Exchange Factors Homo sapiens Intellectual Disability Male Male Genital Organs Missense Mutation Neuropsychological Tests Single-Stranded Conformational Polymorphism Young Adult
8
(35.3%)		 17152066
 Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.
Orrico A, Galli L, Obregon MG, de Castro Perez MF, Falciani M, Sorrentino V.
Am J Med Genet A. 2007;143A(1):58-63.
Brachydactyly
FGD1
c|INS|945|C rs137853266 rs1557188474 rs1557189253 rs1557189592 rs756586058
Child Craniofacial Abnormalities Guanine Nucleotide Exchange Factors Homo sapiens Magnetic Resonance Imaging Male Mutation Sibling Syndrome Urogenital Abnormalities
        

Phenotype(s) retrieved from Orphanet

    Total: 49

HPO ID Term Frequency
HP:0000049 Shawl scrotum Very frequent (99-80%)
HP:0000232 Everted lower lip vermilion Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0001169 Broad palm Very frequent (99-80%)
HP:0001537 Umbilical hernia Very frequent (99-80%)
HP:0001769 Broad foot Very frequent (99-80%)
HP:0001773 Short foot Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0100490 Camptodactyly of finger Very frequent (99-80%)
HP:0200055 Small hand Very frequent (99-80%)
HP:0000023 Inguinal hernia Frequent (79-30%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000337 Broad forehead Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000974 Hyperextensible skin Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0006101 Finger syndactyly Frequent (79-30%)
HP:0008572 External ear malformation Frequent (79-30%)
HP:0009890 High anterior hairline Frequent (79-30%)
HP:0100543 Cognitive impairment Frequent (79-30%)
HP:0000164 Abnormality of the dentition Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000202 Oral cleft Occasional (29-5%)
HP:0000204 Cleft upper lip Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000311 Round face Occasional (29-5%)
HP:0000327 Hypoplasia of the maxilla Occasional (29-5%)
HP:0000470 Short neck Occasional (29-5%)
HP:0000485 Megalocornea Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000684 Delayed eruption of teeth Occasional (29-5%)
HP:0000708 Behavioral abnormality Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0000954 Single transverse palmar crease Occasional (29-5%)
HP:0001635 Congestive heart failure Occasional (29-5%)
HP:0001763 Pes planus Occasional (29-5%)
HP:0001883 Talipes Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002816 Genu recurvatum Occasional (29-5%)
HP:0003319 Abnormality of the cervical spine Occasional (29-5%)
HP:0005640 Abnormal vertebral segmentation and fusion Occasional (29-5%)
HP:0007018 Attention deficit hyperactivity disorder Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 27

HPO ID Term # of case reports
HP:0004322 Short stature 15
HP:0000049 Shawl scrotum 6
HP:0000028 Cryptorchidism 4
HP:0001156 Brachydactyly 4
HP:0000316 Hypertelorism 3
HP:0002650 Scoliosis 2
HP:0000053 Macroorchidism 1
HP:0000311 Round face 1
HP:0000343 Long philtrum 1
HP:0000506 Telecanthus 1
HP:0000508 Ptosis 1
HP:0000540 Hypermetropia 1
HP:0000572 Visual loss 1
HP:0000609 Optic nerve hypoplasia 1
HP:0000717 Autism 1
HP:0001249 Intellectual disability 1
HP:0001769 Broad foot 1
HP:0002827 Hip dislocation 1
HP:0003040 Arthropathy 1
HP:0003198 Myopathy 1
HP:0003470 Paralysis 1
HP:0007018 Attention deficit hyperactivity disorder 1
HP:0009381 Short finger 1
HP:0030084 Clinodactyly 1
HP:0031773 Posterior communicating artery aneurysm 1
HP:0040141 Tardive dyskinesia 1
HP:0100790 Hernia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
FGD1 FYVE, RhoGEF and PH domain containing 1 2245