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Cervical spine hypermobility

MedGen UID:
108277
Concept ID:
C0574967
Finding
Synonym: Cervical spine joint hypermobility
SNOMED CT: Cervical spine hypermobility (298186005)
 
HPO: HP:0003318

Term Hierarchy

Conditions with this feature

Aarskog syndrome
MedGen UID:
61234
Concept ID:
C0175701
Disease or Syndrome
Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body, most commonly the head and face, the hands and feet, and the genitals and urinary system (genitourinary tract). This condition mainly affects males, although females may have mild features of the syndrome.\n\nPeople with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. Affected individuals can also have wide, flat feet with broad, rounded toes. Other abnormalities in people with Aarskog-Scott syndrome include heart defects and a split in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).\n\nMost males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis instead of hanging below. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).\n\nThe intellectual development of people with Aarskog-Scott syndrome varies widely. Most individuals with Aarskog-Scott syndrome have normal intelligence; however, some may have mild learning and behavior problems, and in rare cases, severe intellectual disability has been reported.

Professional guidelines

PubMed

Mao G, Kopparapu S, Jin Y, Davidar AD, Hersh AM, Weber-Levine C, Theodore N
Spine J 2022 Dec;22(12):1944-1952. Epub 2022 Aug 24 doi: 10.1016/j.spinee.2022.08.008. PMID: 36028216
Jae-Min Park A, Nelson SE, Mesfin A
JBJS Rev 2022 Feb 15;10(2) doi: 10.2106/JBJS.RVW.21.00166. PMID: 35171878
Seifert V
Acta Neurochir (Wien) 1995;135(3-4):105-21. doi: 10.1007/BF02187753. PMID: 8748799

Recent clinical studies

Diagnosis

Rozen TD
Curr Opin Neurol 2011 Jun;24(3):211-6. doi: 10.1097/WCO.0b013e328345c5ad. PMID: 21455069
Rozen TD
Handb Clin Neurol 2010;97:489-94. doi: 10.1016/S0072-9752(10)97044-9. PMID: 20816450

Therapy

Rozen TD
Curr Opin Neurol 2011 Jun;24(3):211-6. doi: 10.1097/WCO.0b013e328345c5ad. PMID: 21455069

Prognosis

Rozen TD
Curr Opin Neurol 2011 Jun;24(3):211-6. doi: 10.1097/WCO.0b013e328345c5ad. PMID: 21455069

Clinical prediction guides

Rozen TD
Handb Clin Neurol 2010;97:489-94. doi: 10.1016/S0072-9752(10)97044-9. PMID: 20816450

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