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acrocapitofemoral dysplasia
ICD-10 Codes
Related ICD-10:
Description
Acrocapitofemoral dysplasia (ACFD) is a rare autosomal recessive skeletal dysplasia characterized by short stature with short limb dwarfism, brachydactyly, and a narrow thorax [5]. It is a recently delineated condition, first described in the medical literature in 2003 [7].
The clinical features of ACFD include:
- Short stature: Individuals with ACFD are typically shorter than average, with short limbs and a narrow thorax [1][2].
- Brachydactyly: The hands and fingers
Additional Characteristics
- Short stature
- Narrow thorax
- Brachydactyly
Signs and Symptoms
Based on the provided context, here are the signs and symptoms of Acrocapitofemoral Dysplasia (ACFD):
- Short stature of variable degrees [1, 5]
- Short limbs [1, 3, 4, 7]
- Brachydactyly (short fingers) [7]
- Narrow thorax [1]
- Postnatal-onset disproportionate short stature [2, 9]
- Relatively short arms and legs compared to the body size [2]
Additionally, some specific physical characteristics associated with ACFD include:
- Radial bowing [8]
- Enlargement of the distal femoral epiphysis [8]
- Single interphalangeal crease of fifth finger [8]
- Short stature [9]
It's worth noting that these symptoms can vary in severity and may not be present in all individuals with ACFD.
Additional Symptoms
- Brachydactyly (short fingers)
- Narrow thorax
- Short limbs
- Relatively short arms and legs compared to the body size
- Radial bowing
- Enlargement of the distal femoral epiphysis
- Single interphalangeal crease of fifth finger
- short stature
Diagnostic Tests
Based on the available information, it appears that diagnostic tests for acrocapitofemoral dysplasia are limited.
- According to search result [5], a 113 gene panel is ideal for patients with a clinical suspicion of a skeletal dysplasia,
Additional Diagnostic Tests
- 113 gene panel
Treatment
Current Understanding of Drug Treatment for Acrocapitofemoral Dysplasia
Acrocapitofemoral dysplasia (ACFD) is a rare skeletal dysplasia characterized by short stature, short limbs, and narrow thorax. While there is limited information available on the drug treatment of ACFD, research suggests that certain treatments may be effective in managing symptoms.
- SAG Treatment: Research has shown that SAG effectively treats skeletal dysplasia caused by Ihh gene mutations in a mouse model [3][6][7]. This suggests that SAG may represent a potential therapeutic option for ACFD.
- Consultation with Healthcare Professionals: It is essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance on the most effective course of action for managing symptoms and improving quality of life [8].
Current Research and Findings
While there is limited research specifically focused on drug treatment for ACFD, studies have explored the effects of various treatments on related skeletal dysplasias.
- Skeletal Dysplasia Treatment: Research has demonstrated that SAG effectively treats skeletal dysplasia caused by Ihh gene mutations in a mouse model [3][6][7]. This suggests that SAG may be a potential therapeutic option for ACFD.
- General Skeletal Dysplasia Management: Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs [4].
Important Considerations
When considering drug treatment for acrocapitofemoral dysplasia, it is essential to consult with a healthcare professional. They can provide personalized guidance on the most effective course of action and help manage symptoms.
References:
[3] X Li · 2021 · Cited by 5 — These results demonstrated that SAG effectively treats skeletal dysplasia caused by Ihh gene mutations in a mouse model. [4] Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, [6] by X Li · 2021 · Cited by 5 — These results demonstrated that SAG effectively treats skeletal dysplasia caused by Ihh gene mutations in a mouse model. [7] by X Li · 2021 · Cited by 5 — These results demonstrated that SAG effectively treats skeletal dysplasia caused by Ihh gene mutations in a mouse model. [8] Please consult with a healthcare professional for medical advice and treatment.
Recommended Medications
- SAG
- Consultation with Healthcare Professionals
💊 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
Acrocapitofemoral dysplasia (ACFD) is a rare autosomal recessive skeletal dysplasia, and its differential diagnosis mainly includes other bone dysplasias with cone-shaped epiphyses. Some of the conditions that can be considered in the differential diagnosis of ACFD are:
- Asphyxiating thoracic dysplasia: This condition is characterized by a narrow thorax and an abnormal pelvis, which differentiates it from ACFD.
- Trichorhinophalangeal dysplasia: Patients with this condition have distinctive facial features, hair abnormalities, and short stature, but the presence of cone-shaped epiphyses in the hands can be a key feature to distinguish it from ACFD.
Other conditions that may be considered in the differential diagnosis of ACFD include:
- Bone dysplasias with cone-shaped epiphyses: These are a group of rare skeletal disorders characterized by abnormal growth and development of bones, particularly in the hands.
- Brachydactyly type A1: This is a rare genetic disorder that affects the development of the fingers and toes, and can be associated with mutations in the IHH gene.
It's worth noting that the differential diagnosis of ACFD requires a comprehensive evaluation of clinical features, radiographic findings, and genetic testing to rule out other conditions. [4][6][8]
Additional Differential Diagnoses
- Asphyxiating thoracic dysplasia
- Trichorhinophalangeal dysplasia
- Bone dysplasias with cone-shaped epiphyses
- brachydactyly type A1
Additional Information
- relatedICD
- http://example.org/icd10/M61.17
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0050604
- oboInOwl#hasDbXref
- MIM:607778
- IAO_0000115
- An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_644
- owl#annotatedSource
- t331975
- rdf-schema#comment
- OMIM mapping confirmed by DO. [SN].
- core#notation
- DOID:0050604
- rdf-schema#label
- acrocapitofemoral dysplasia
- rdf-schema#subClassOf
- t332385
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.