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acrofacial dysostosis Rodriguez type
ICD-10 Codes
Related ICD-10:
Description
Acrofacial dysostosis Rodriguez type is a rare genetic disorder characterized by severe malformations in the face and limbs.
- Severe mandibular hypoplasia (underdeveloped jaw) [4]
- Upper limb phocomelia with oligodactyly (short arms and hands with fewer fingers) [8]
- Complex malformations of the CNS, lungs, and heart [5]
- Short stature [6]
- Malar hypoplasia (underdeveloped cheekbones) [6]
- Downslanting palpebral fissures (eyes slanted downward) [6]
This condition is associated with severe limb reduction defects and mandibulofacial dysostosis, which are characteristic features of acrofacial dysostosis Rodriguez type. The disorder has an autosomal recessive inheritance pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
References: [4] - Acrofacial dysostosis syndrome of Rodriguez is a rare genetic disorder characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, ... [5] - Disease Ontology Definition:An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies ... [6] - This extremely rare disease has autosomal recessive inheritance and is characterized by short stature, malar hypoplasia, downslanting palpebral fissures, ... [8] - The arms and forearms were very short, with more severely affected forearms, and the hands appeared to be attached directly to the upper arms ( ...
Additional Characteristics
- Short stature
- Downslanting palpebral fissures
- Malar hypoplasia
- Severe mandibular hypoplasia
- Upper limb phocomelia with oligodactyly
- Complex malformations of the CNS, lungs, and heart
Signs and Symptoms
Clinical Signs and Symptoms
Acrofacial dysostosis, Rodríguez type, is a rare genetic disorder characterized by several distinct clinical signs and symptoms.
- Small stature: Individuals with this condition often have short stature, which can be a result of the underlying genetic mutation [1].
- Mandibular hypoplasia: This condition is primarily manifested by underdevelop
Additional Symptoms
- Mandibular hypoplasia
- Small stature
Diagnostic Tests
Based on the provided context, it appears that diagnostic tests for Acrofacial Dysostosis Rodriguez type are not explicitly mentioned. However, I can provide some general information about the condition and its diagnosis.
Acrofacial Dysostosis Rodriguez type is a rare genetic disorder characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, and absent fibula [6]. The diagnosis of this condition is typically made through a combination of clinical evaluation, radiological imaging, and genetic testing.
Some possible diagnostic tests that may be used to diagnose Acrofacial Dysostosis Rodriguez type include:
- Prenatal ultrasonography: This test can detect abnormalities in the fetus's limbs and face [7].
- Radiological imaging: X-rays, CT scans, or MRI scans may be used to evaluate the extent of limb and facial malformations.
- Genetic testing: Molecular genetic analysis can confirm the presence of a specific genetic mutation associated with Acrofacial Dysostosis Rodriguez type.
It's worth noting that the diagnosis of this condition is typically made by a team of specialists, including geneticists, radiologists, and pediatricians. The diagnostic process may involve multiple tests and evaluations to confirm the diagnosis.
References:
[6] - This sentence was generated based on information from search result 6. [7] - This sentence was generated based on information from search result 7.
Additional Diagnostic Tests
- Genetic testing
- Prenatal ultrasonography
- Radiological imaging
Treatment
Early Intervention and Treatment Options
Acrofacial Dysostosis Rodriguez Type, also known as Nager syndrome, is a rare genetic disorder characterized by craniofacial malformations and limb abnormalities. While there is no cure for this condition, early intervention and treatment can significantly improve the quality of life for individuals affected by it.
Plastic Surgery
One of the key treatment options for Acrofacial Dysostosis Rodriguez Type is plastic surgery to correct mandibular abnormalities (1). This can help improve facial aesthetics and function, as well as address any related issues such as difficulty breathing or eating. Early intervention in childhood is often recommended to take advantage of optimal growth and development.
Hearing Aid Intervention
Another important aspect of treatment for Acrofacial Dysostosis Rodriguez Type is hearing aid intervention (8). Many individuals with this condition experience some degree of hearing loss, which can be addressed through the use of hearing aids. Early intervention in childhood can help optimize language development and communication skills.
Other Treatment Options
While there are no specific treatments that target the underlying genetic cause of Acrofacial Dysostosis Rodriguez Type, other treatment options may be considered on a case-by-case basis (9). These may include speech therapy to address any related communication difficulties, as well as physical therapy to improve mobility and function.
Current Research and Advances
Researchers are continually working to better understand the genetic causes of Acrofacial Dysostosis Rodriguez Type and to develop new treatment options. Recent advances in medical research have led to a greater understanding of the condition and its associated symptoms (4).
References:
- [1] Nager syndrome is characterized by craniofacial malformations occurring in association with abnormalities of the thumb and forearm.
- [8] Early intervention, involving plastic surgery for mandibular abnormalities and early hearing aid intervention for deafness, has been found to be beneficial.
- [9] Acrofacial Dysostosis Rodriguez Type Latest Advances. Find the Latest Research About Acrofacial Dysostosis Rodriguez Type ... Treatment Used: Speech Therapy, ...
Recommended Medications
- Physical Therapy
- Speech Therapy
- Plastic Surgery
- Hearing Aid Intervention
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis for acrofacial dysostosis Rodriguez type involves considering other conditions that present with similar symptoms, such as mandibulofacial dysostosis and limb reduction defects.
- Other disorders with micrognathia (small jaw) and distal ectromelia (short limbs) should be ruled out, including trisomy 18 [10].
- Nager syndrome is a distinct form of acrofacial dysostosis characterized by thumb abnormalities on the radial side of the hand, which can be differentiated from Rodriguez type based on limb abnormalities [9].
It's essential to note that acrofacial dysostosis lethal type of Rodriguez is inherited as an autosomal recessive trait and presents with severe mandibular hypoplasia (small jaw), small stature, and other characteristic features [4]. However, the differential diagnosis for this condition would also involve considering other genetic disorders that present with similar symptoms.
References: [9] Nager syndrome is distinguished from other forms of acrofacial dysostosis by the limb abnormalities, which are primarily on the thumb (radial) side of the hand. [10] May 31, 2002 — Differential diagnosis: Other disorders with micrognathia and distal ectromelia such as trisomy 18. Prognosis: Lethal from lung hypoplasia due ...
Additional Differential Diagnoses
- limb reduction defects
- Nager syndrome
- trisomy 18
- mandibulofacial dysostosis
Additional Information
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- IAO_0000115
- An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance.
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