Sakati–Nyhan–Tisdale syndrome

Sakati–Nyhan–Tisdale syndrome
Sakati–Nyhan–Tisdale syndrome
Other names	Acrocephalopolysyndactyly type III
	This condition is inherited in an autosomal dominant manner
Specialty	Medical genetics

Sakati–Nyhan–Tisdale syndrome,^[1] is a rare genetic disorder that has been associated with abnormalities in the bones of the legs, congenital heart defects and craniofacial defects. The syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly or ACPS, for short.^[2]

Presentation[]

The syndrome was first reported in an eight-year-old boy, but very few cases have been reported since then.^[1] The syndrome is detected by abnormalities noted at birth involving 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 and other respiratory and breathing infections, all before the age of one. Body development subsequently slows down, but some problems can be fixed under proper guidance, such as learning to walk with special crutches by five years of age.^[1] Craniofacial problems are present that have no effect on the patient's intelligence and mental growth.^{[citation needed]}

Most problems resulting from the syndrome are physical. It causes acrocephaly, making the head appear pointed, and webbing or syndactyly of certain toes or fingers.^[3]

Causes[]

Although no cause has been officially confirmed, researchers speculate the disease might result from a genetic mutation that sporadically occurs for unknown reasons.^[3]

Diagnosis[]

Treatment[]

Eponym[]

The disease was named after a Syrian pediatrician named Nadia Awni Sakati^[4] and her two American counterparts, William Leo Nyhan^[5] and W.K. Tisdale,^[6] who were working alongside her in the pediatrics department at University of California, San Diego.

It was characterized in 1971.^[7]^[8]

References[]

^ Jump up to: ^a ^b ^c ^d "Sakati–Nyhan–Tisdale Syndrome Information". Ole Daniel Enersen.
^ Jump up to: ^a ^b "Sakati Syndrome Information Guide". WebMD.
^ Jump up to: ^a ^b "Sakati Syndrome Information". British Columbia Ministry of Health.
^ Patrick Jucker-Kupper. "Nadia Awni Sakati Medical profile". Ole Daniel Enersen.
^ Günter Krämer. "William Leo Nyhan Medical profile". Ole Daniel Enersen.
^ "W.K. Tisdale Medical profile". Ole Daniel Enersen.
^ Sakati N, Nyhan WL, Tisdale WK (1971). "A new syndrome with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin, and lower limbs". J. Pediatr. 79 (1): 104–9. doi:10.1016/S0022-3476(71)80066-5. PMID 4253694.
^ synd/2176 at Who Named It?

External links[]

[Syndrome-1] Jump up to: ^a ^b ^c ^d "Sakati–Nyhan–Tisdale Syndrome Information". Ole Daniel Enersen.

[WebMD-2] Jump up to: ^a ^b "Sakati Syndrome Information Guide". WebMD.

[Health-3] Jump up to: ^a ^b "Sakati Syndrome Information". British Columbia Ministry of Health.

[Sakati-4] Patrick Jucker-Kupper. "Nadia Awni Sakati Medical profile". Ole Daniel Enersen.

[Nyhan-5] Günter Krämer. "William Leo Nyhan Medical profile". Ole Daniel Enersen.

[Tisdale-6] "W.K. Tisdale Medical profile". Ole Daniel Enersen.

[pmid4253694-7] Sakati N, Nyhan WL, Tisdale WK (1971). "A new syndrome with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin, and lower limbs". J. Pediatr. 79 (1): 104–9. doi:10.1016/S0022-3476(71)80066-5. PMID 4253694.

[8] synd/2176 at Who Named It?

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

hide v t Congenital abnormality syndromes
Craniofacial	Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome
Short stature	1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome
Limbs	Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome Ectromelia Sirenomelia VACTERL association
Overgrowth syndromes	Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I
Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
Combined/other, known locus	2 (Feingold syndrome) 3 (Zimmermann–Laband syndrome) 4/13 (Fraser syndrome) 8 (Branchio-oto-renal syndrome, CHARGE syndrome) 12 (Keutel syndrome, Timothy syndrome) 15 (Marfan syndrome) 19 (Donohue syndrome) Multiple Fryns syndrome

Sakati–Nyhan–Tisdale syndrome
Other names	Acrocephalopolysyndactyly type III

This condition is inherited in an autosomal dominant manner
Specialty	Medical genetics