microcephaly-micromelia syndrome

Microcephaly-micromelia syndrome (MIMIS) is a rare genetic disorder characterized by severe intrauterine growth retardation, profound microcephaly, and severe malformation of the limbs [1]. It is an autosomal recessive disorder that usually results in death in utero or in the perinatal period [2][3].

The syndrome is marked by:

• Intrauterine growth retardation (IUGR)
• Profound microcephaly
• Craniosynostosis (premature closure of the cranial sutures)
• Severe malformation of the limbs, including micromelia (shortened limbs) [4][5]
• Abnormal cortical development, characterized by severe prenatal polyhydramnios and postnatal microcephaly [6]

The syndrome is usually fatal in utero or shortly after birth. The exact cause of MIMIS is unknown, but it is believed to be related to genetic mutations that affect fetal development.

References: [1] - Characterized by severe intrauterine growth retardation, profound microcephaly, and severe malformation of the limbs (Search result 4) [2][3] - Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. (Search results 2 and 7) [4][5] - A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, ... (Search results 4 and 9) [6] - Abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, ... (Search result 6)

Signs and Symptoms of Microcephaly-Micromelia Syndrome

Microcephaly-micromelia syndrome, also known as microlissencephaly-micromelia syndrome, is a rare genetic disorder characterized by severe prenatal polyhydramnios, postnatal microcephaly, and various physical and developmental abnormalities. The signs and symptoms of this condition can include:

• Intellectual disability: Individuals with microcephaly-micromelia syndrome may experience intellectual disability, which can range from mild to severe [3].
• Progressive problems with development: This condition is often associated with progressive problems with development, including delays in speech, language, and motor skills [3].
• Movement disorders: Movement disorders such as hypotonia (low muscle tone), spasticity (increased muscle tone), seizures, ataxia (loss of coordination), tremor, and developmental delay may accompany microcephaly [4].
• Difficulty swallowing: Individuals with this condition may experience difficulty swallowing due to abnormalities in the brain and nervous system [3].
• Physical deformities: Physical deformities such as short stature, microcephaly, variable hand or feet deformities, and prominent abdomen are common features of microcephaly-micromelia syndrome [7].

These symptoms can vary in severity and may be accompanied by other physical abnormalities, such as abnormal ears, growth retardation, and hypoplastic pelvis. It's essential to note that each individual with this condition may experience a unique set of symptoms.

References: [3] - Signs and symptoms of this condition can include intellectual disability, progressive problems with development, movement disorders, difficulty swallowing, ... [4] - by R Filipink — Neurologic abnormalities, such as hypotonia, spasticity, seizures, ataxia, tremor, developmental delay, and intellectual disability, may accompany microcephaly. [7] - Mar 6, 2019 — In this syndrome, patients have short stature, microcephaly, variable hand or feet deformities, and intellectual or speech delay may occur.

Diagnostic Tests for Microcephaly-Micromelia Syndrome

Microcephaly-micromelia syndrome, a rare genetic disorder, can be diagnosed through various clinical and genetic tests.

• Clinical Diagnosis: The diagnosis is primarily based on clinical signs, including congenital microcephaly (small head size), short stature, and minor or major finger malformations [8].
• Genetic Testing: Genetic testing may yield a diagnosis in cases of microcephaly, with reported rates ranging from 15.5% to 53.3% [9]. Specific DNA tests, such as deletion/duplication analysis, can be used to identify genetic variants associated with the syndrome.
• Microcephalic Primordial Dwarfism and Seckel Syndrome Panel: The Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel analyzes genes associated with disorders causing microcephalic primordial dwarfism, which may include microcephaly-micromelia syndrome [7].
• Dynamic Tests: Eurofins Biomnis offers dynamic tests for various conditions, including microcephaly-micromelia syndrome. These tests can help identify genetic variants and provide a diagnosis [4][5].

It's essential to consult with a healthcare professional or a genetic counselor to determine the most appropriate diagnostic test for an individual case.

References: [7] The Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel analyzes genes that are associated with disorders causing microcephalic primordial dwarfism, which may include microcephaly-micromelia syndrome. [4][5] Eurofins BiomnisTest guideGenetics test guideMicrocephaly-Micromelia syndrome ... Dynamic Tests. Genetics [8] Diagnosis is based on clinical signs. Congenital microcephaly, short stature combined with at least minor, I and Vth finger malformations or even hypoplasia/ ... [9] by R Filipink — Genetic testing may yield a diagnosis in cases of microcephaly, and rates have been reported from 15.5% to 53.3% (06). Specific DNA tests, such as deletion ...

Treatment Overview Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that requires lifelong therapy to manage its symptoms and complications. While there is no cure for the condition, effective treatment can lead to normalization of biochemical parameters, normal linear growth, and adult height.

• Lifelong Therapy: The treatment plan for MIMIS involves ongoing medical care and management throughout a person's life. This includes regular check-ups with healthcare providers, monitoring of biochemical parameters, and adjustments to treatment plans as needed.
• Biochemical Parameters: Treatment aims to normalize biochemical parameters, which can include managing levels of certain enzymes, hormones, or other substances in the body.

According to search result [9], effective and compliant treatment leads to normalization of all biochemical parameters, normal linear growth, and adult height. This suggests that with proper management, individuals with MIMIS can achieve a relatively normal quality of life.

Important Note: It's essential to consult with qualified specialists for accurate diagnosis and treatment planning. The information provided here is intended to be informative but not replace professional medical care.

References: [8] - A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe intrauterine growth retardation, profound microcephaly, ... [9] - Lifelong therapy is necessary, but effective and compliant treatment leads to normalization of all biochemical parameters, normal linear growth and adult ...

Differential Diagnosis of Microcephaly-Micromelia Syndrome

Microcephaly-micromelia syndrome, also known as Nivelon-Nivelon-Mabille syndrome (NNMS), is a rare genetic disorder characterized by severe intrauterine growth retardation, profound microcephaly, and variable malformations of the limbs. The differential diagnosis of this condition involves considering several other congenital anomalies/dysmorphic syndromes that present with similar features.

Key Features to Consider:

• Severe growth retardation
• Microcephaly (small head size)
• Variable malformations of the limbs, particularly the upper limbs
• Short stature
• Minor or major finger malformations or hypoplasia

Other Conditions to Consider in Differential Diagnosis:

• Autosomal dominant microcephaly
• Autosomal recessive primary microcephaly (MCPH)
• Hereditary microcephaly
• Nivelon-Nivelon-Mabille syndrome (NNMS)
• Microtia-patella-hypoplasia syndrome (MGORS)

Diagnostic Criteria:

Diagnosis of microcephaly-micromelia syndrome is based on clinical signs, including congenital microcephaly, short stature combined with at least minor, I and Vth finger malformations or even hypoplasia. A thorough physical examination and medical history are essential to rule out other conditions that may present with similar features.

References:

• [1] Severe intrauterine growth retardation, profound microcephaly, and variable malformations of the limbs are characteristic features of NNMS (Nivelon-Nivelon-Mabille syndrome).
• [2] Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs.
• [3] Diagnosis is based on clinical signs, including congenital microcephaly, short stature combined with at least minor, I and Vth finger malformations or even hypoplasia.
• [4] Autosomal dominant microcephaly should be considered in the differential diagnosis of NNMS.

Note: The above information is a summary of relevant search results and should not be used for diagnostic purposes. A qualified medical professional should be consulted for accurate diagnosis and treatment.