obsolete SC phocomelia syndrome

Phocomelia Syndrome: A Rare Genetic Disorder

Phocomelia syndrome, also known as pseudothalidomide syndrome or SC phocomelia syndrome, is a rare genetic disorder characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face, and limbs [4].

The syndrome is caused by a mutation in the ESCO2 gene, which leads to mild-to-severe prenatal growth restriction and limb malformations [3][9]. Clinical signs at birth include bilateral symmetric limb malformations, facial hemangioma, and other skeletal abnormalities [7].

Phocomelia syndrome is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [6]. The syndrome is rare and affects only a few individuals worldwide.

Key Features:

• Severe prenatal growth retardation
• Malformation of bones in the skull, face, and limbs
• Bilateral symmetric limb malformations
• Facial hemangioma
• Other skeletal abnormalities

Note: Phocomelia syndrome is an obsolete term, and the condition is now referred to as ESCO2 spectrum disorder or Roberts syndrome.

Obsolete SC Phocomelia Syndrome: Signs and Symptoms

SC Phocomelia, also known as Roberts/SC Phocomelia syndrome, is a rare autosomal recessive disorder characterized by severe limb defects and cleft palate. The symptoms may vary between affected individuals.

• Severe Limb Defects: The most common feature of SC Phocomelia is the presence of severe limb malformations, which can include:
  • Bilateral symmetric limb reduction [1][2]
  • Flexion contractures of various joints [5]
  • Shortened or absent arms and/or legs [4][7]
• Cleft Palate: A significant number of individuals with SC Phocomelia syndrome have cleft palate, which can lead to feeding difficulties and other complications.
• Growth Retardation: Prenatal-onset growth retardation is common in individuals with SC Phocomelia, which may continue into the postnatal period [13].
• Craniofacial Anomalies: Some individuals with SC Phocomelia may have craniofacial anomalies, such as minor facial abnormalities.
• Impaired Intellectual Development: Individuals with SC Phocomelia syndrome may experience impaired intellectual development.
• Cardiac and Renal Anomalies: Cardiac and renal anomalies are also associated with SC Phocomelia syndrome.

It is essential to note that the symptoms of SC Phocomelia syndrome can vary significantly between affected individuals, and not all individuals will exhibit all of these features.

Based on the provided context, it appears that SC phocomelia syndrome is a rare autosomal recessive disorder caused by mutations in the ESCO2 gene.

Diagnostic tests for SC phocomelia syndrome:

• Karyotyping reveals heterochromatin repulsion characteristic of the condition [3][13]
• Genetic testing can be applied to confirm the diagnosis, including pathogenic variants in the ESCO2 gene [4][5][13]

It's worth noting that these diagnostic tests are likely to be performed by specialized geneticists or medical professionals with expertise in rare genetic disorders.

References:

[1] Roberts syndrome (RBS; MIM 268300) and SC phocomelia syndrome (MIM 269000) are autosomal recessive disorders caused by mutations in the ESCO2 gene, which encodes a protein belonging to the Eco1/Ctf7 family of acetyltransferases involved in establishing sister chromatid cohesion during S phase. Karyotyping reveals heterochromatin repulsion characteristic of the condition.

[3] Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth.

[4] The ESCO2 gene encodes a protein belonging to the Eco1/Ctf7 family of acetyltransferases involved in establishing sister chromatid cohesion during S phase.

[5] Genetic testing can be applied to confirm the diagnosis, including pathogenic variants in the ESCO2 gene.

[13] Roberts syndrome (RBS; MIM 268300) and SC phocomelia syndrome (MIM 269000) are autosomal recessive disorders caused by mutations in the ESCO2 (establishment of cohesion 1 homolog 2) gene, which encodes a protein belonging to the Eco1/Ctf7 family of acetyltransferases involved in establishing sister chromatid cohesion during S phase. Karyotyping reveals heterochromatin repulsion characteristic of the condition.

Note: The above information is based on the provided context and may not be comprehensive or up-to-date. If you have any further questions or concerns, please feel free to ask!

Based on the provided context, it appears that there are limited information available about the drug treatment for Roberts Syndrome (SC Phocomelia Syndrome). However, I can provide some general information about the condition and its management.

Roberts Syndrome is a rare genetic disorder characterized by prenatal-onset growth retardation, limb and facial abnormalities, and severe developmental delays. The treatment of this condition is primarily symptomatic and supportive, focusing on managing the physical and developmental disabilities associated with it.

According to search result [9], the treatment for Roberts Syndrome includes:

• Corrective surgery for cleft palate and limb deformities
• Prostheses and assistive devices to aid in mobility and daily living activities
• Physical therapy and occupational therapy to improve motor skills and independence

However, there is no specific information available about drug treatments for this condition. The use of thalidomide, a drug that was previously associated with phocomelia (a similar congenital disorder), is not mentioned as a treatment option for Roberts Syndrome.

It's worth noting that the management of Roberts Syndrome is highly individualized and may involve a multidisciplinary team of healthcare professionals, including geneticists, pediatricians, surgeons, and therapists. If you are looking for information on drug treatments for this condition, I would recommend consulting with a qualified healthcare professional or a medical expert in the field.

References: * [9] Oct 25, 2021 — The treatment and management of RS is symptomatic, such as corrective surgery for cleft palate and limb deformities; prostheses, and ...

The differential diagnosis for SC phocomelia, also known as Roberts syndrome/SC phocomelia, includes several conditions that present overlapping phenotypes.

• Rad50 deficiency: This condition is characterized by microcephaly and other features similar to SC phocomelia [7].
• Cernunnos-XLF syndrome: This rare genetic disorder presents with microcephaly and other symptoms that can be confused with SC phocomelia [14].
• Phenocopy diseases: These are conditions that mimic the symptoms of a genetic disease, including SC phocomelia. It's essential to consider these in the differential diagnosis, especially for diseases presenting with similar features [8].

It's also worth noting that other conditions like Parkes Weber syndrome, Servelle-Martorell syndrome, Proteus syndrome, and **hemihyperpl