Rare And Medical Conditions

Branchial Disorders - Disorders resulting from abnormal development of the branchial arches in the embryo.

First Arch Syndrome

This is used as an all inclusive title to embrace numerous developmental errors of the facial bones that have been described under different names. This grouping is justified since all these syndromes are considered as variable manifestations of one basic development error, a faulty vascularization of the first arch during embryonal life (abnormalities of the stapedial artery). The different manifestations of the various syndromes depend on the speed with which collateral circulation developes and more or less compensates for this defect.

Etiology

Unknown, a common genetic defect, dominant with variable penetrance will be at the basis of all those syndromes, and the compensatory mechanism (anastomosis) determines its degree of penetrance and consequently the various clinical aspects

• Treacher Collins.
• Pierre Robin.
• Franceschetti-Klein.
• Hypertelorism.
• Goldenhar?
• Cleft lip and palate.
• Some deformities of external and middle ear including deafness.

The last two may also occur as a result of environmental agents and various recognized chromosomal disorders, and such cases must not be included in the first arch syndrome.

Hemifacial Microtia

- (First and Second Arch syndrome, Occularicular Vertibral Dysplasia, Hemifacial Microsomia, Goldenhar syndrome.)

The predominant defects in this non random association of anomalies represent problems in morphogenesis of the first and second arch branchial arches, sometimes accompanied by vertebral anomalies and/or ocular anomalies. The occurance of epibulbar dermoid with this pattern of anomaly, especially when accompanied by vertebral anomaly was designated as the Goldenhar syndrome, and the predominantly unilateral occurrance was designated as Hemifacial Microsomia. However, the occurrence of various combinations and graduations of this pattern of anomalies both bilateral and unilateral, with or without epibulbar dermoid, and with or without anomaly, has suggested that Hemifacial Microsomia and Goldehar syndromes may simply represent graduations in severity of a similar error in morphogenesis. The frequency of occurrences is estimated to be 1;3000 to 1;5000, and there is a slight (3;2) male predominance.

Abnormalities

Variable combinations of the following tending to be asymmetric and 70% unilateral.

• Facial.
  • Hypoplasia of malar, maxillary, and/or mandiblar region, especially ramus and condyle of mandible and temporomandibular joint. Lateral cleft like extentions of corner of the mouth (macrosomia). Hypoplasia of facial musculature.
• Ear.
  • Microcia, accessory preauricular (skin) tags and / or pits most commonly in a line from the tragus (center of ear) to the corner of the mouth. Middle ear anomalies with variable deafness.
• Oral.
  • Diminished to absent parotid secretion, Anomolies in function or structure of the tongue and a malfunction of the soft palate.
• Vertibral
  • Hemivetrebrae or hypoplasia of vertebrae most commonly cervical but may also be thoracic or lumbar.

Occasional Abnormalities

• Eye.
  • Notch in upper lid.
• Ear.
  • Inner ear defect with deafness.
• Oral
  • Cleft lip Cleft palate.
• Other
  • Mental deficiency (IQ below 85 in 13%), Renal, Limb and / or rib abnormalities, Low scalp hair line and pre natal growth deficiency.

Natural History

Cosmetic surgery is strongly indicated. Most of these patients are of normal intelligence. Mental deficiency is more common in Microphthalmia. Deafness should be tested for at an early age.

Etiology

Unknown, Usually sporadic, estimated recurrance in first degree relatives is about 2%, although minor features of this disorder may be more commonly noted in relatives. When unilateral it tends to be right sided.

(Definitions of medical terms are avialable)

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