A very rare autosomal dominant syndrome, characterized
by bone malformations and apocrine deficiency.
Ulnar Mammary Syndrome; Ulnar Mammary Syndrome of
Mutations in the T-Box 3 (TBX3) gene, located on
12q24.1, are responsible for Schinzel syndrome.
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.
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. 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.
It is essential to assess the condition of the
apocrine system (clinical, historical); airway
(clinical, fiberoptic endoscopy); and renal function (electrolytes, urea, creatinine,
echography, CT scan, radionuclide imaging if necessary).
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. 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
Avoid parasympatholytic drugs because
of a dysfunction in the sweat response. Avoid nephrotoxic drugs in cases of renal dysfunction.
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 severe deficiency of all four limbs, including absent feet,
hypoplastic femora, absent ulnae, absent fibulae, thoracic dystrophy, and
ADULT Syndrome: An acronym that stands for
Acro-Dermo-Ungueal-Lacrimal-Tooth. The main findings are hypodontia, very brittle and/or
premature loss of permanent teeth, and ectrodactyly (split hands and feet). There is
no evident impairment of general health in patients with ADULT Syndrome.
Ectrodactyly, Ectodermal Dysplasia, and Clefting (EEC) Syndrome: Autosomal
dominant inherited syndrome with maxillary hypoplasia, mild malar hypoplasia, cleft lip
and palate, choanal atresia, hearing loss, photophobia and blepharophimosis,
dacryocystitis, cryptorchidism, hypogonadotropic hypogonadism renal agenesis or
dysplasia, hydronephrosis, occasionally mental retardation, central diabetes insipidus.
Limb Mammary Syndrome (LMS): This very rare syndrome is
characterized by severe anomalies of the hands and feet in combination with
hypoplasia or aplasia of the ...