Catel Manzke syndrome

Catel-Manzke Syndrome: A Rare Genetic Disorder

Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers and the classic features of Pierre Robin sequence [1][3][5][7][9][11]. The key feature of this syndrome is a bilateral hyperphalangy of the index finger, where there is an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger [10].

Classic Features

The classic features of Pierre Robin sequence, which are often associated with Catel-Manzke syndrome, include:

• Micrognathia (small lower jaw)
• Cleft palate
• Glossoptosis (tongue displacement)

Additionally, individuals with Catel-Manzke syndrome may also exhibit a unique form of bilateral hyperphalangy, where an accessory bone is inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger [4][12].

Clinical Description

Catel-Manzke syndrome has been described in more than 33 patients [10]. The key feature of this syndrome is a bilateral hyperphalangy of the index finger, which causes the index fingers to be locked in a bent position (clinodactyly) [11]. This unique characteristic is often accompanied by the classic features of Pierre Robin sequence.

References

[1] Catel-Manzke syndrome was first described in the medical literature in 1961 by Dr. Catel and later further evaluated by Dr. Manzke in 1966. [3] Catel–Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; occasionally with additional physical findings. [4] Catel-Manzke syndrome is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger (summary by Manzke et al., 2008). [5] Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence with hyperphalangy and clinodactyly of the index finger. [7] Catel-Manzke syndrome is a rare genetic disorder characterized by Pierre Robin sequence, which includes micrognathia, cleft palate, and glossoptosis. [9] Catel–Manzke syndrome (MIM: 616145) is a rare genetic disorder characterized by Pierre Robin sequence with hyperphalangy and clinodactyly of the index finger. [10] Catel-Manzke syndrome has been described in more than 33 patients. Clinical description The key feature of Catel-Manzke syndrome is a bilateral hyperphalangy of the index finger in which there is an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. [11] Summary Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers and the classic features of Pierre Robin sequence. Affected individuals have an extra bone at the base of the index that causes the index fingers to be locked in a bent position (clinodactyly). Pierre... [12] Catel-Manzke syndrome is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger (summary by Manzke et al., 2008).

Distinctive Abnormalities of Index Fingers

Catel-Manzke syndrome is characterized by distinctive abnormalities of the index fingers, including a defining feature of locked-in bent position due to an extra bone at the base of the index finger (clinodactyly) [1][2]. This condition affects the development of bones and cartilage, leading to skeletal abnormalities.

Classic Features of Pierre Robin Sequence

The classic features of Pierre Robin sequence are also associated with Catel-Manzke syndrome, including a cleft palate, small jaw, and tongue positioned further back in the mouth [1][3].

Other Physical Findings

Additional physical findings may include congenital heart defects, upslanting palpebral fissures, bifid uvula, and abnormality of head or neck [4][5]. The clinical presentation of this condition is consistent with these features among others.

Age of Onset

Symptoms of Catel-Manzke syndrome may start to appear as a newborn, although the age of onset can vary between individuals [6].

Key Features

The key feature of Catel-Manzke syndrome is bilateral hyperphalangy of the index finger with an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger [7][8]. This condition has been described in more than 33 patients.

Recognizing the Signs and Symptoms

Recognizing the signs and symptoms of Catel-Manzke syndrome can be challenging due to the varying severity of the condition. Some common features include distinctive facial appearance, skeletal abnormalities, and congenital heart defects [9].

References: [1] - Context result 2 [2] - Context result 6 [3] - Context result 4 [4] - Context result 5 [5] - Context result 8 [6] - Context result 10 [7] - Context result 12 [8] - Context result 13 [9] - Context result 14

Diagnostic Tests for Catel-Manzke Syndrome

Catel-Manzke syndrome is a rare genetic disorder, and its diagnosis can be challenging. However, several diagnostic tests are available to help confirm the condition.

• Genetic Analysis: Genetic analysis is recommended for individuals with a personal and/or family history of this disorder to ensure an accurate molecular diagnosis [5]. This test can identify the presence of the TGDS gene mutation associated with Catel-Manzke syndrome.
• Clinical Features Evaluation: Clinical features evaluation involves assessing the individual's physical characteristics, such as bilateral hyperphalangy and clinodactyly of the index finger, which are typical of this condition [7].
• Imaging Studies: Imaging studies, including radiological findings, can confirm digital abnormalities associated with Catel-Manzke syndrome, such as a supernumerary deltoid or trapezoid bone located ulnarwards between the slightly shortened second metacarpal bones [1].

Other Diagnostic Tests

In addition to these tests, other diagnostic methods may be employed to rule out other conditions that may present similar symptoms. These include:

• Prenatal Testing: Prenatal testing can be performed to diagnose Catel-Manzke syndrome in a fetus [9].
• Post-natal Testing: Post-natal testing is also available for individuals suspected of having this condition [10].

References

[1] Context result 1 [5] Context result 5 [7] Context result 7 [9] Context result 9 [10] Context result 10

Catel-Manzke syndrome, also known as Pierre Robin sequence with hyperphalangy and clinodactyly of the index finger, is a rare genetic disorder that affects various aspects of an individual's health. While there are no specific medications or treatments available to cure Catel-Manzke syndrome, certain therapies can help alleviate its symptoms.

Surgical Intervention

The only available therapy for Catel-Manzke syndrome is surgery, aimed at ensuring airway patency and eliminating cleft palate [6]. This surgical intervention facilitates breathing and feeding, as well as correcting the abnormalities in the index fingers. In some cases, additional surgeries may be required to address other complications associated with the condition.

Other Therapies

While there are no specific medications for Catel-Manzke syndrome, other therapies can help manage its symptoms. For instance, prone positioning for breathing and/or feeding is an effective treatment for airway distress and/or feeding complications in neonates [2]. This therapy involves placing the infant on their stomach to improve respiratory function.

Exercise Treatment

In some cases, exercise treatment may be recommended to address phalangeal abnormalities associated with Catel-Manzke syndrome. For example, a study reported that a 13-month-old child underwent surgery for cleft palate correction and received exercise therapy for her phalangeal issues [9].

It is essential to note that each individual's experience with Catel-Manzke syndrome can vary greatly, and the most effective treatment plan will depend on the specific symptoms and complications present. Consultation with a healthcare professional is crucial in determining the best course of action.

References:

[2] - Treatment for airway distress and/or feeding complications involves prone positioning for breathing and/or feeding and is effective for most neonates. [6] - The only available therapy is surgery, aimed to ensure airway patency and to eliminate cleft palate, to facilitate breathing and feeding, and to correct the abnormalities in the index fingers. [9] - A 13-month-old child underwent surgery for cleft palate correction and received exercise therapy for her phalangeal issues.

Differential Diagnoses for Catel-Manzke Syndrome

Catel-Manzke syndrome, a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger, typically in association with Pierre Robin sequence, can be challenging to diagnose due to its rarity. However, several differential diagnoses have been proposed based on similar clinical features.

• Desbuquois Syndrome: This congenital disorder is characterized by skeletal abnormalities, including short stature, joint laxity, and facial dysmorphism. While it shares some similarities with Catel-Manzke syndrome, the presence of accessory ossification centers at the metacarpophalangeal joints is a distinctive feature of the latter [1].
• Brachydactyly Type C: This rare genetic disorder affects the development of the hands and feet, resulting in hyperphalangism of the index and middle fingers. However, the clinodactyly and radial deviation of the index finger seen in Catel-Manzke syndrome are not typically associated with brachydactyly type C [13].
• Congenital NAD Deficiency Disorder (CNDD): This rare genetic disorder can present with a range of clinical features, including skeletal malformations and facial dysmorphism. While some similarities exist between CNDD and Catel-Manzke syndrome, the unique hand malformations and accessory ossification center in the latter are distinct [11].
• Pierre Robin Sequence: This condition is characterized by micrognathia, cleft palate, and glossoptosis. While it is often associated with Catel-Manzke syndrome, the presence of bilateral hyperphalangy and clinodactyly of the index finger in the latter is a key distinguishing feature [3].

These differential diagnoses highlight the importance of careful clinical evaluation and radiographic examination to accurately diagnose Catel-Manzke syndrome. A comprehensive understanding of these conditions can aid healthcare professionals in providing appropriate care and management for affected individuals.

References:

[1] Context result 2 [3] Context result 4 [11] Context result 12 [13] Context result 13