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acrofacial dysostosis, Patagonia type
ICD-10 Codes
Related ICD-10:
Description
Acrofacial dysostosis, Patagonia type is a rare genetic disorder characterized by normal intelligence, short stature, and mild acrofacial dysostosis.
- Symptoms include:
- Oligodontia (few or no teeth)
- Short stature
- Pili torti (twisted hair)
- Syndactyly (webbing of fingers or toes)
- Vertebral abnormalities
- Cleft lip
- Malar hypoplasia (underdeveloped cheekbones)
- Micrognathia (small lower jaw)
- Webbing of digits with shortening of the fourth metacarpals
This condition is inherited in an X-linked dominant pattern, meaning that it is caused by a mutation on the X chromosome and can be passed down from mothers to their daughters. It is a very rare form of acrofacial dysostosis, reported in only four members of a family from the Sicilian village of Palagonia.
[Citations: 5, 11, 14, 15]
Additional Characteristics
- Short stature
- Cleft lip
- Micrognathia (small lower jaw)
- Oligodontia (few or no teeth)
- Pili torti (twisted hair)
- Syndactyly (webbing of fingers or toes)
- Vertebral abnormalities
- Malar hypoplasia (underdeveloped cheekbones)
- Webbing of digits with shortening of the fourth metacarpals
Signs and Symptoms
Overview of Acrofacial Dysostosis, Patagonia Type
Acrofacial dysostosis, Patagonia type is a rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia [1]. This condition affects bone development and leads to malformations in the musculoskeletal system during fetal development.
Common Symptoms
The symptoms of acrofacial dysostosis, Patagonia type include:
- Malar hypoplasia (underdeveloped cheekbones)
- Micrognathia (small lower jaw
Additional Symptoms
- Micrognathia
- Malar hypoplasia
Diagnostic Tests
Based on the provided context, it appears that diagnostic tests for Acrofacial Dysostosis, Patagonia type are not explicitly mentioned. However, I can provide some general information about diagnostic tests related to this condition.
Diagnostic tests for acrofacial dysostosis may include:
- Physical examination: A thorough physical examination by a qualified healthcare professional is essential in identifying the characteristic features of acrofacial dysostosis.
- Imaging studies: Various imaging studies such as X-rays, CT scans, and MRI scans may be ordered to evaluate the extent of skeletal abnormalities, vertebral abnormalities, and other associated features.
- Genetic testing: Genetic testing may be recommended to confirm the diagnosis and identify the underlying genetic cause of the condition.
It is essential to note that a definitive diagnosis of acrofacial dysostosis can only be made by a qualified healthcare professional through a comprehensive evaluation of clinical features, family history, and diagnostic tests.
References:
- [1] Acrofacial dysostosis, patagonia type is a condition characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities, and cleft lip ... (Context 1)
- [4] Definition: An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, ... (Context 4)
- [5] Definition: An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent ... (Context 5)
Additional Diagnostic Tests
- Genetic testing
- Imaging studies
- Physical examination
Treatment
Based on the provided context, it appears that there is limited information available on the specific treatment for Acrofacial Dysostosis, Patagonia type.
However, I can provide some general information on the condition. Acrofacial Dysostosis, also known as Crouzon syndrome or Antley-Bixler syndrome, is a rare genetic disorder characterized by premature fusion of bones in the skull and face, leading to various physical deformities and developmental delays [1].
Regarding treatment, it's essential to note that there is no specific cure for Acrofacial Dysostosis. Treatment typically focuses on managing symptoms, preventing complications, and improving quality of life.
Some possible treatments mentioned in the context include:
- Surgical interventions: To correct physical deformities, such as craniofacial surgery or orthopedic procedures [3].
- Pharmacological management: Although not specifically mentioned for Acrofacial Dysostosis, various medications may be used to manage associated conditions, such as pain, inflammation, or infections.
- Multidisciplinary care: A team of healthcare professionals, including geneticists, surgeons, orthopedic specialists, and other experts, may work together to provide comprehensive care [1].
It's crucial to consult with a qualified medical professional for personalized advice on managing Acrofac
Recommended Medications
- Surgical interventions
- Pharmacological management
- Multidisciplinary care
💊 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
Based on the provided context, here are some potential differential diagnoses for acrofacial dysostosis, Patagonia type:
- Lyme borreliosis: According to search result 3, acrofacial dysostosis, Patagonia type is a clinical manifestation of Lyme borreliosis. This suggests that Lyme disease could be considered as a differential diagnosis for this condition.
- Autoimmune neuropathy: Search result 7 mentions autoimmune neuropathy as a possible differential diagnosis for acrofacial dysostosis, Patagonia type.
- Other bone development disorders: Dysostosis is a bone development disorder that affects ossification, leading to malformations in the musculoskeletal system during the antenatal period (search result 2). This suggests that other bone development disorders could be considered as differential diagnoses for acrofacial dysostosis, Patagonia type.
It's worth noting that these are just potential differential diagnoses and not necessarily definitive diagnoses. A comprehensive evaluation by a medical professional would be necessary to determine the actual cause of the condition.
References: * [3] - Acrofacial dysostosis, Patagonia type is a clinical manifestation of Lyme borreliosis. * [7] - Autoimmune neuropathy is mentioned as a possible differential diagnosis for acrofacial dysostosis, Patagonia type. * [2] - Dysostosis is a bone development disorder that affects ossification.
Additional Differential Diagnoses
- Other bone development disorders
- autoimmune neuropathy
- Lyme disease
Additional Information
- core#notation
- DOID:0060385
- rdf-schema#label
- acrofacial dysostosis, Patagonia type
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_0060379
- relatedICD
- http://example.org/icd10/M26.04
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1411
- owl#annotatedSource
- t341383
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#creation_date
- 2015-09-21T15:38:31Z
- oboInOwl#id
- DOID:0060385
- oboInOwl#created_by
- elvira
- oboInOwl#hasDbXref
- UMLS_CUI:C1866168
- IAO_0000115
- An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
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