Schinzel Syndrome

At a glance

A very rare autosomal dominant syndrome, characterized by bone malformations and apocrine deficiency.

Synonyms

Ulnar Mammary Syndrome (UMS); Ulnar Mammary Syndrome of Pallister; Cubito-Mammary Syndrome.

History

First described in 1882 by E. Gilly.

Genetic inheritance

Autosomal dominant.

Incidence

Around 80 cases described worldwide, equal sex distribution.

Pathophysiology

Mutations in the T-Box 3 (TBX3) gene, located on 12q24.1, are responsible for Schinzel Syndrome.

Diagnosis

Characterized by skeletal abnormalities affecting the bones of the forearms and hands. Underdevelopment and dysfunction of certain sweat glands and/or the breast is also observed. Lack of body odor.

Clinical aspects

The syndrome is associated with multiple signs: short stature, obesity, and complex skeletal malformations that can include skeletal abnormalities affecting the hands and/or forearms (hypoplasia, complete absence of the bone on the outer aspect of the forearm [ulna] and third, fourth and fifth fingers). Additionally, affected infants may have additional finger malformations with or without ulnar and/or digital abnormalities on the other side of the body. Patients are generally delayed in growth and skeletal maturation by around 5 to 7 years. Other abnormalities associated with Schinzel Syndrome include absent or incorrectly positioned (ectopic) teeth, delayed growth, uterine and vaginal abnormalities, hypogenitalism (delayed puberty), subglottic stenosis, inguinal hernia, anal atresia, pyloric stenosis, and kidney agenesia or ectopy. Obesity.

Precautions before anesthesia

It is essential to assess the condition of the apocrine system (clinical, historical); airway (clinical, fiberoptic endoscopy); and renal function (electrolytes, urea, creatinine, CT scan, radionuclide imaging if necessary). Screening for cardiac arrhythmias.

Anesthetic considerations

Direct laryngoscopy and tracheal intubation can be difficult because of mouth malformation and the presence of tracheal substenosis. Preserving spontaneous ventilation should be preferable until the trachea is secured and lung ventilation confirmed. The availability of a laryngeal mask airway and/or fiberoptic intubating equipment is highly recommended. Care should be taken to avoid damage to fragile teeth. Venous, arterial access, as well as blood pressure and SpO₂ (arterial oxyhemoglobin saturation) measurement, can be difficult to obtain because of limb malformation. Regional anesthesia is not contraindicated but can be difficult to realize. Hyperthermia should be prevented because of apocrine gland deficiency.

Pharmacological implications

Avoid parasympatholytic drugs because of a dysfunction in the sweat response. Avoid nephrotoxic drugs in cases of renal dysfunction.

Other conditions to be considered

• Absence of Ulna and Fibula with Severe Limb Deficit (Al Awadi Teebi Farag Syndrome; Limb/Pelvis-Hypoplasia/Aplasia Syndrome; Al-Awadi Raas-Rothschild Syndrome; Schinzel Phocomelia Syndrome): Autosomal recessive with ...