Middigital hand mass typical of the syndactyly present in Apert’s syndrome. [entokey.com]

The syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly or ACPS, for short.[2] Presentation[edit] The syndrome was first reported in an eight-year-old boy, but very few cases have been reported since then.[1] The syndrome [en.wikipedia.org]

CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. [phgkb.cdc.gov]

She had the characteristic redundant loose skin present since birth which was evident on the limbs and abdomen. She also had hypertelorism, depressed flat nasal bridge, high palate, and atrial septal defect. [grfpublishers.com]

Typically, the organ will either not be present on one side or will be underdeveloped. [dictionnaire.sensagent.leparisien.fr]

• Cyanosis

  […] the head, limbs, heart, ears, and skin.[1] It is characterized by premature closure of the fibrous joints between certain bones of the skull in a process known as craniosynostosis.[2] As documented in the first case, the victim tends to suffer from cyanosis [en.wikipedia.org]

• Arthritis

  Farlex Partner Medical Dictionary © Farlex 2012 Lesch-Nyhan syndrome An X-R condition caused by a deficiency of 24 kD hypoxanthine-guanine phosphoribosyl transferase, with accumulation of uric acid crystals in renal pelvis and bladder, pseudo-gouty arthritis [medical-dictionary.thefreedictionary.com]

• Head Banging

  This self-injury involves the biting of their own lips, tongue, and finger tips, as well as head banging. This behavior leads to serious injury and scarring. Lesch-Nyhan syndrome affects approximately one in 380,000 live births. [medical-dictionary.thefreedictionary.com]

• Compulsive Behavior

  Self-injurious behavior, self-restraint, and compulsive behaviors have been described as features of Cornelia de Lange syndrome. [meridian.allenpress.com]

• Distractibility

  […] in the children of Gulf War veterans has been suggested but the difference was shown to be statistically insignificant.[5] Treatment Treatment is usually confined to such surgical intervention as may be necessary to help the child to develop e.g. jaw distraction [dictionnaire.sensagent.leparisien.fr]

• Tremor

  Palsy — Uncontrolable tremors. Spasticity — Increased mucle tone, or stiffness, which leads to uncontrolled, awkward movements. Resources Books Beers, Mark H., MD, and Robert Berkow, MD., editors. "Cerebral Palsy Syndromes." [medical-dictionary.thefreedictionary.com]

An increase in Goldenhar syndrome in the children of Gulf War veterans has been suggested but the difference was shown to be statistically insignificant.[5] Treatment Treatment is usually confined to such surgical intervention as may be necessary to help [dictionnaire.sensagent.leparisien.fr]

Treatment There are no known treatments for the neurological defects of Lesch-Nyhan. Allopurinol (Aloprim, Zyloprim), a drug usually prescribed to lower the risk of gout attacks, can lower blood uric acid levels. [medical-dictionary.thefreedictionary.com]

Each detected anomaly is assigned a priority treatment based on its functional or cosmetic nature. If there are no disorders that need ophthalmic treatment, then further ophthalmic evaluation depends on the timing of craniofacial surgery. [entokey.com]

(August 2017) Treatment[edit] This section is empty. You can help by adding to it. [en.wikipedia.org]

[…] causes the first Italian cases of Woodhouse Sakati syndrome. 61 Steindl K...Schneider SA 21044051 2010 47 Sanjad-Sakati Syndrome in Omani children. 61 Rafique B...Al-Yaarubi S 22043344 2010 48 Case report: Sanjad--Sakati syndrome: dental findings and treatment [malacards.org]

Prognosis With strong supportive care, infants born with Lesch-Nyhan can live into adulthood with symptoms continuing throughout life. Few live beyond 40, however, with death usually resulting either from kidney failure or from aspiration pneumonia. [medical-dictionary.thefreedictionary.com]

Selection Dominance Epistasis Mutation Genetic drift Gene flow Horizontal gene transfer Linkage Applications Explaining levels of genetic variation Detecting selection Demographic inference Evolution of genetic systems Quantitative genetics Genetic epidemiology [humangeneticsjournal.com]

Some patients with Lesch-Nyhan syndrome have their teeth removed to prevent self-injury. [medical-dictionary.thefreedictionary.com]

Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. [phgkb.cdc.gov]

Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty. 61 Rachmiel M...Parvari R 21304230 2011 43 Sanjad-Sakati Syndrome in Sudanese children. 61 Arabi WA...Abdullah MA 27493305 2011 44 Preimplantation genetic diagnosis (PGD)--prevention [malacards.org]