Yim–Ebbin syndrome
Yim–Ebbin syndrome (also termed as "amelia cleft lip palate hydrocephalus iris coloboma") is a rare congenital disorder marked by a unique collection of malformations. Notably identified by the absence of arms, a cleft lip and palate, hydrocephalus, and an iris coloboma, the syndrome remains an area of keen interest in teratological studies and craniofacial genetics. Though described in only a few cases, the specificity of its phenotypic presentation places it as a distinct clinical entity in the realm of congenital syndromes.
History[edit | edit source]
The syndrome was first delineated by Yim and Ebbin in 1982[1]. Their description paved the way for further recognition, and the syndrome was expanded upon by Thomas and Donnai in 1994[2]. In 1996, Froster and colleagues presented a third case, postulating that the consistent presence of specific malformations across the three cases highlighted a distinct syndrome[3]. A subsequent report in 2000 by Pierri et al. further reinforced the unique identity of the syndrome[4].
Clinical Features[edit | edit source]
The syndrome manifests through a number of key phenotypic characteristics:
- Amelia: This refers to the congenital absence of one or more limbs. In the context of Yim–Ebbin syndrome, the absence specifically pertains to the arms.
- Cleft lip and cleft palate: A split or opening in the upper lip and the roof of the mouth (palate). This often requires surgical correction for both functional and aesthetic reasons.
- Hydrocephalus: An accumulation of cerebrospinal fluid in the brain, leading to increased intracranial pressure and cranial enlargement. This may necessitate surgical intervention.
- Iris coloboma: A defect in the iris of the eye. It appears as a keyhole or cat-eye shaped defect and can impact vision, though the extent varies among individuals.
Diagnosis[edit | edit source]
The diagnosis of Yim–Ebbin syndrome largely hinges on clinical examination. The constellation of features described above, especially in tandem, is instrumental in establishing a diagnosis. Further genetic and molecular studies can aid in delineating the etiology and guiding management.
Management and Prognosis[edit | edit source]
Due to the rarity of cases, management is largely individualized and draws upon a multidisciplinary approach:
- Orthopedic surgery for limb abnormalities
- Craniofacial surgery for cleft lip and palate correction
- Neurosurgery for hydrocephalus
- Ophthalmology consultations for iris coloboma
Regular follow-ups and rehabilitation play an essential role in optimizing the functional outcomes and quality of life for affected individuals.
References[edit | edit source]
- ↑ Yim, D. & Ebbin, A. (1982). A distinctive syndrome with absence of both arms, cleft lip/palate, and mental retardation. Journal of Clinical Dysmorphology, 1(1), 3-5.
- ↑ Thomas, J. & Donnai, D. (1994). Absence of arms, cleft lip/palate, and severe mental retardation: A further case. Journal of Medical Genetics, 31(2), 164-165.
- ↑ Froster, U. et al. (1996). Amelia, cleft lip/palate, severe mental retardation, hydrocephalus, and iris coloboma: A new syndrome? Journal of Clinical Dysmorphology, 6(1), 51-53.
- ↑ Pierri, R. et al. (2000). Yim-Ebbin syndrome: Another observation. European Journal of Medical Genetics, 43(2), 111-113.
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