Melnick-Needles syndrome

Melnick-Needles syndrome, also known as osteodysplasty of Melnick and Needles, is a rare skeletal dysplasia that affects both skeletal and connective tissue.

Key Features:

• Affects skeletal and connective tissue
• Less than 70 cases reported in the literature [8]
• Characterized by a small chest cavity, abnormal ribs, short collarbone, and narrow shoulders [9]

Symptoms in Females:

• Substantial variability observed in females [11]
• Some individuals are diagnosed in adulthood after ascertainment of an affected family member
• Others may require substantial respiratory support, with some requiring ambulatory oxygen supplementation starting in the second decade

Comparison to Other Conditions:

• Similarities have been noted with terminal osseous dysplasia with pigmentary skin defects (TODPD) [12]
• Females can present with severity similar to affected males, although some may have only mild manifestations

Melnick-Needles syndrome is a rare and complex condition that affects the skeletal and connective tissue. The symptoms and characteristics of this condition are not yet fully understood and require further research.

References: [8] Zargarbashi R (2023) - Melnick-Needles syndrome [9] - Other main symptoms include a small chest cavity, abnormal ribs, short collarbone and narrow shoulders. [11] - Some individuals are diagnosed in adulthood after ascertainment of an affected family member [Kristiansen et al 2002]. [12] - Terminal osseous dysplasia with pigmentary skin defects (TODPD).

Melnick-Needles Syndrome Signs and Symptoms

Melnick-Needles syndrome is a rare congenital disorder that affects primarily bone development, leading to various physical abnormalities. The signs and symptoms of this condition can vary in severity between genders and among affected individuals.

Common Signs and Symptoms:

• Short stature: Individuals with Melnick-Needles syndrome often have short stature, which can be more pronounced in males.
• Skeletal abnormalities: This condition is characterized by skeletal deformities, including flaring of the metaphyses of long bones, s-like curvature of bones of legs, and irregular constrictions in the bones.
• Facial dysmorphism: People with Melnick-Needles syndrome often have distinctive facial features, such as a prominent forehead, bilateral exophthalmos (bulging eyes), fullness of the cheeks, micrognathia (small jaw), and malalignment of teeth.
• Hearing loss: Some individuals may experience hearing loss due to abnormalities in the ear structure.
• Obstruction of ureters: In some cases, individuals with Melnick-Needles syndrome may have obstruction of the ducts between the kidneys and bladder (ureters) or heart defects.

Gender-Specific Differences:

• Males: Males with Melnick-Needles syndrome generally have more severe signs and symptoms than females. They often die before or soon after birth.
• Females: Females can present with severity similar to affected males, although some may have only mild manifestations.

These physical abnormalities can significantly impact an individual's quality of life, making it essential for early diagnosis and proper management.

References:

• [1] Males with Melnick-Needles syndrome generally have much more severe signs and symptoms than do females, and in almost all cases die before or soon after birth. (Source: #10)
• [2] Individuals with this condition usually have short stature and unusually long fingers and toes. They may additionally have certain skeletal abnormalities. (Source: #11)
• [3] In addition to skeletal abnormalities, individuals with Melnick-Needles syndrome may have obstruction of the ducts between the kidneys and bladder (ureters) or heart defects. Males with Melnick-Needles syndrome generally have much more severe signs and symptoms than do females, and in almost all cases die before or soon after birth. (Source: #12)
• [4] Females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. (Source: #13)

Diagnostic Tests for Melnick-Needles Syndrome

Melnick-Needles syndrome, a rare genetic disorder, can be diagnosed through various tests that assess the skeletal development and other health problems associated with this condition. Here are some diagnostic tests used to diagnose Melnick-Needles syndrome:

• Clinical Molecular Genetics test: This test involves sequence analysis of the entire coding region, Next-Generation (NGS)/Massively Parallel Sequencing (MPS) or targeted gene sequencing [5]. It helps identify mutations in the genes associated with Melnick-Needles syndrome.
• Blood tests: Blood samples can be used to extract DNA for genetic testing. The test requires two 4ml EDTA tubes, lavender top [6].
• Extracted DNA testing: This test involves analyzing extracted DNA from a patient's sample. It is recommended that the DNA should be in EB buffer and of 3ug quantity [6].
• Buccal Swab or Saliva testing: These tests can also be used to extract DNA for genetic testing. Kits are available upon request [6].

Other Diagnostic Tests

In addition to these specific tests, specialists may also suggest other types of tests to help reach a diagnosis. These may include:

• Audiometry and otoscopy: Audiometry showed increasing hearing loss, mostly at low frequencies, and to a lesser degree at high frequencies. The right tympanogram was flat, and otoscopy revealed abnormalities [8].
• Imaging studies: Imaging studies such as X-rays or CT scans may be used to assess skeletal development and identify any abnormalities.

Diagnostic Teams

A diagnostic team for Melnick-Needles syndrome may include:

• Genetics specialists
• Ophthalmology specialists
• Orthopedics specialists

These teams can help diagnose the condition, provide a treatment plan, and coordinate care with other healthcare providers [10].

References: [5] - Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively Parallel Sequencing (MPS) or targeted gene sequencing. [6] - Blood (two 4ml EDTA tubes, lavender top), Extracted DNA testing, Buccal Swab or Saliva testing. [8] - Audiometry and otoscopy. [10] - Diagnostic teams for Melnick-Needles syndrome may include: Genetics. Ophthalmology. Orthopedics.

Melnick-Needles syndrome, a rare genetic disorder, does not have a specific treatment or cure. However, various treatments can help manage its symptoms.

• Conservative management: In some cases, conservative management may be sufficient for patients with bony deformities without lethal conditions [7].
• Corrective surgery: Corrective surgery may be necessary in some cases to address malocclusion and facial dysmorphism [6].
• Orthodontic treatment: Orthodontic treatment with surgical intervention is required due to malocclusion and facial dysmorphism [6].
• Respiratory support: Some individuals, particularly males, may require substantial respiratory support, including ambulatory oxygen supplementation starting in the second decade [13].

It's essential to note that a team of doctors often works together to determine the best treatment options for each individual with Melnick-Needles syndrome. While these treatments can help manage symptoms, they do not address the underlying genetic cause of the disorder.

References:

[6] Due to malocclusion and facial dysmorphism, the patient with Melnick–Needles syndrome requires orthodontic treatment with surgical intervention. [7] by R Zargarbashi · 2023 — Treatment for MNS patients with bony deformities without lethal conditions can be conservative, but corrective surgery may be necessary in some cases. [13] Substantial variability is observed in females. Some individuals are diagnosed in adulthood after ascertainment of an affected family member [Kristiansen et al 2002]. Others require substantial respiratory support; several individuals have required ambulatory oxygen supplementation, typically starting in the second decade.

Differential Diagnoses for Melnick-Needles Syndrome

Melnick-Needles syndrome, a rare congenital hereditary skeletal dysplasia, can be challenging to diagnose due to its similarities with other conditions. The following are some differential diagnoses that may be considered:

• Otopalatodigital spectrum disorders: These include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2), frontometaphyseal dysplasia (FMD), and Melnick-Needles syndrome. These conditions share clinical and radiological similarities with Melnick-Needles syndrome [3][5].
• Frank-Ter Haar syndrome: This condition exhibits characteristics similar to Melnick-Needles syndrome, making it a differential diagnosis [11].
• Pierre Robin sequence: Characterized by glossoptosis and cleft of the secondary palate, this condition differs from Melnick-Needles syndrome but may be considered in the differential diagnosis [11].

Key Features for Differential Diagnosis

When considering differential diagnoses for Melnick-Needles syndrome, it is essential to note the following key features:

• Skeletal abnormalities: Flaring of the metaphyses of long bones, s-like curvature of bones of legs, and irregular constrictions in the bones are characteristic of Melnick-Needles syndrome [6].
• Facial deformities: Exophthalmos, full cheeks, micrognathia, and malalignment of teeth are typical facial features associated with Melnick-Needles syndrome [6].

Diagnostic Considerations

The diagnosis of Melnick-Needles syndrome is usually established in a female proband with characteristic clinical and radiographic features and a family history. Molecular genetic testing can confirm the diagnosis if clinical features, radiographic features, and/or family history are inconclusive [14].