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.

Yim–Ebbin syndrome at Online Mendelian Inheritance in Man

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