In this report a boy affected with AARR syndrome is presented. The previous pregnancy of the mother was terminated because of lower limb agenesis detected at 14th week of gestation. [ncbi.nlm.nih.gov]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Triphalangeal thumb is a rare preaxial deformity with a variety of presentations. Its percentage in the present study was 1.4%. [annsaudimed.net]

However, he presented with clinical features of Down syndrome. Table 2. [library.down-syndrome.org]

Y Diagnosis was present at time of inpatient admission. YES N Diagnosis was not present at time of inpatient admission. NO U Documentation insufficient to determine if the condition was present at the time of inpatient admission. [icdlist.com]

• Proportionate Short Stature

  Proportionate short stature MedGen UID: 163901 •Concept ID: C0878660 • Finding A kind of short stature in which different regions of the body are shortened to a comparable extent. [ncbi.nlm.nih.gov]

• Partial Alopecia

  Case Reports Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females S A Al-Awadi et al. Am J Med Genet. 1985 Nov. [pubmed.ncbi.nlm.nih.gov]

• Sloping Shoulders

  shoulders, small, broad hands with mild interdigital webbing and fifth finger clinodactyly, hyperextensible hand joints, and shawl scrotum. [cags.org.ae]

  shoulders Growth Height: short stature, proportionate Skeletal Spine: vertebral fusion (rare) Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum absent 12th rib (rare) Head And Neck Mouth: narrow palate wide mouth high-arched palate pouting [malacards.org]

  Down-sloping shoulders MedGen UID: 346461 •Concept ID: C1856872 • Finding Low set, steeply sloping shoulders. [ncbi.nlm.nih.gov]

• Hyperextensible Joints

  […] hand joints, and shawl scrotum. [cags.org.ae]

Treatment There is no known cure for Aarskog syndrome. Treatment is limited to surgical procedures to treat conditions caused by the disorder and supportive treatment. [medigoo.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

[…] population size of the region, the availability of these disorders offers a great opportunity for regional scientists to use related gene data for a better understanding of the function of the human genome and to translate this knowledge into future treatment [hmaward.org.ae]

It needs supportive and rehabilitative treatment for various manifestations. Growth hormone therapy helps in augmentation of the short stature. [jmgims.co.in]

PMID: 27544718 Prognosis Parıltay E, Hazan F, Ataman E, Demir K, Etlik Ö, Özbek E, Özkan B J Pediatr Endocrinol Metab 2016 Sep 1;29(9):1111-4. doi: 10.1515/jpem-2015-0482. [ncbi.nlm.nih.gov]

As prenatal diagnostic techniques improve, so should the timeliness of intervention for many genetic diseases with poor prognosis. [tp.amegroups.com]

… Aarskog-Scott Syndrome (Aarskog's Syndrome): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. For every purchase made in store or called in between the hours of 11:00 a. [lefera.com]

The etiology can be divided into environmental and genetic causes. [annsaudimed.net]

The etiology of familial non-disjunction is not well understood. There are several possible explanations for the familial occurrence of aneuploidy. [library.down-syndrome.org]

[from SNOMEDCT_US] From HPO Cryptorchidism MedGen UID: 8192 •Concept ID: C0010417 • Congenital Abnormality Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the [ncbi.nlm.nih.gov]

2015/2/4/356/165745 Introduction The etiology of short stature is diverse. It varies from idiopathic to dysmorphic syndromes. Aarskog syndrome (AS) wasfirst reported by Aarskog in 1970. [cjhr.org]

(Etiology) Aarskog Syndrome is an X-linked inherited disorder, caused by a genetic mutation in a gene called FGDY1 (Fascial Genital Dysplasia 1). [lefera.com]

Summary Epidemiology It has been observed in 16 subjects from five distantly related sibships of a large Kuwaiti Bedouin tribe. [orpha.net]

Ophthalmic Epidemiology 12(4), 251–257.CrossRefGoogle ScholarPubMed Al-Salem, M. & Rawashdeh, N. (1993) Consanguinity in north Jordan: prevalence and pattern. [cambridge.org]

Epidemiology of Down syndrome in 118,265 consecutive births. Am J Med Genet Suppl 1990;7:79-83. 38. Mutton D, Alberman E, Hook EB. Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. [jmedscindmc.com]

"The incidence and epidemiology of congenital upper limb anomalies: a total population study". J Hand Surg [Am]. 2001; 26(4):628-34. 3. Zguricas J, Bakker WF, Heus H, Lindhout D, Heutink P, Hovius SE. [annsaudimed.net]

Heterozygous carriers have to be assessed through a population-based study which would be of great help for future preventive measurements. [emro.who.int]

In general, the committee decides only to report (likely) pathogenic variants indicative of a treatable or preventable health problem, when it is regarded to be in the counselee’s best interest to be informed. [order.radboudumc.nl]

Parents often need advice and supportive treatment There is no guaranteed prevention. [medigoo.com]

Prevention can be achieved by proper genetic counseling, which includes recurrence risk estimation and prenatal diagnosis. [annsaudimed.net]

Centers for Disease Control and Prevention [Learn More] [icdlist.com]