Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome is a rare genetic disorder characterized by a combination of specific abnormalities. The syndrome is also known as Lobster Claw Syndrome or Split Hand-Split Foot Malformation.
Overview[edit | edit source]
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome is a congenital condition, meaning it is present from birth. The syndrome is characterized by three main features: holoprosencephaly, ectrodactyly, and cleft lip/cleft palate.
Holoprosencephaly[edit | edit source]
Holoprosencephaly is a condition where the brain's forebrain fails to divide into the bilateral cerebral hemispheres, resulting in defects in the development of the brain and face.
Ectrodactyly[edit | edit source]
Ectrodactyly, also known as split hand/split foot malformation, is a condition where there is a central clefting or splitting of the hands and/or feet, often giving the appearance of lobster claws.
Cleft Lip/Palate[edit | edit source]
Cleft lip and cleft palate are facial and oral malformations that occur during early pregnancy, where the lip or the mouth do not form properly.
Causes[edit | edit source]
The exact cause of Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome is unknown. However, it is believed to be genetic in nature, possibly due to mutations in certain genes.
Diagnosis[edit | edit source]
Diagnosis of this syndrome is typically made based on the presence of the characteristic signs and symptoms. Genetic testing may be used to confirm the diagnosis and identify the specific genetic mutation.
Treatment[edit | edit source]
Treatment for Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome is symptomatic and supportive. This may include surgery to correct cleft lip and palate, physical therapy for mobility issues related to ectrodactyly, and various therapies to support cognitive development in individuals with holoprosencephaly.
Prognosis[edit | edit source]
The prognosis for individuals with Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome varies greatly depending on the severity of the symptoms. Some individuals may have a normal lifespan with appropriate management, while others may have life-threatening complications.
NIH genetic and rare disease info[edit source]
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
