3 free views remaining today
syndactyly type 1
ICD-10 Codes
Description
Syndactyly Type 1: A Congenital Limb Developmental Defect
Syndactyly type 1, also known as zygodactyly, is a congenital limb developmental defect that involves webbing or joining of the fingers or toes. It is the most common type of non-syndromic syndactyly.
Characteristics:
- Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure
- Bony fusions are referred to as "bony" Syndactyly if they involve the bones of the digits
Types:
- Simple syndactyly: fingers or toes that are fused together by only skin
- Complex syndactyly: fingers or toes that are fused together, including bone structure, nerves, and blood vessels
Prevalence:
Syndactyly type 1 is a relatively rare condition, but it is the most common type of non-syndromic syndactyly. The exact prevalence is not well established, but it is estimated to occur in about 1 in 2000-3000 live births.
References:
- [1] Syndactyly type 1 is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes. (Source: Search result 8)
- [2-5] Syndactyly type 1 is also known as zygodactyly, and it involves webbing or joining of the fingers or toes. (Sources: Search results 2, 3, 8, and 10)
Additional Characteristics
- webbing or joining of the fingers or toes
- soft parts only or including bone structure
- simple syndactyly: fingers or toes that are fused together by only skin
- complex syndactyly: fingers or toes that are fused together, including bone structure, nerves, and blood vessels
- or the 2nd and 3rd toes
Signs and Symptoms
Common Signs and Symptoms of Syndactyly Type 1
Syndactyly type 1, also known as simple syndactyly, is a congenital limb developmental defect that involves webbing or joining of the fingers or toes. The condition can affect any two or more fingers, but it most often occurs between the middle and ring fingers.
- Webbed skin: Webbed skin between fingers or toes is a common feature of syndactyly type 1.
- Fused digits: Fingers or toes may be joined all the way from the base to the tip or only partway up.
- Limited mobility: Digits that are fused or joined may look webbed, and they may not move well.
- Asymmetry: The affected fingers or toes may appear shorter than usual or have an unusual curvature.
Types of Syndactyly Type 1
There are four different subtypes of syndactyly type 1, differentiated by slightly different hand and foot symptoms. These include:
- Simple syndactyly: Occurs when skin and soft tissue conjoin fingers.
- Complex syndactyly: Involves bony fusion in addition to soft tissue webbing.
Other Symptoms
In some cases, having webbed fingers and/or toes may be only one symptom of a more complex condition. A prenatal ultrasound or X-ray can determine the type and extent of the fusion.
References:
- [3] Syndactyly most often occurs between the middle and ring fingers.
- [5] Webbed skin between fingers or toes is a common feature of syndactyly.
- [9] The main symptom of syndactyly is webbed fingers or toes.
- [11] Syndactyly can occur in both the upper and lower extremities, creating the appearance of "webbed" or "super" digits.
Additional Symptoms
- Limited mobility
- Webbed skin
- Fused digits
- Asymmetry
Diagnostic Tests
Diagnostic Tests for Syndactyly Type 1
Syndactyly type 1, also known as simple syndactyly, is a congenital limb developmental defect that involves webbing or joining of the fingers or toes. Diagnosing this condition typically involves a combination of clinical evaluation and diagnostic tests.
- Clinical Evaluation: A thorough physical examination by a pediatrician or orthopedic specialist can often diagnose syndactyly
Additional Diagnostic Tests
- Physical Examination
Treatment
Differential Diagnosis
Differential Diagnosis of Syndactyly Type 1
Syndactyly type 1, also known as Weidenreich type or zygodactyly, is a condition characterized by the fusion of adjacent fingers. To determine the differential diagnosis for this condition, it's essential to consider various factors and possible causes.
- Genetic Factors: Syndactyly type 1 can be inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition [4][9]. This suggests that genetic testing may be necessary to confirm the diagnosis.
- Other Congenital Anomalies: Syndactyly type 1 can occur as part of a larger syndrome or in combination with other congenital anomalies, such as polydactyly or cleft palate [7][8].
- Environmental Factors: While rare, environmental factors like maternal smoking or lower nutritional and economic status have been linked to an increased risk of syndactyly type 1 [2].
Key Considerations for Differential Diagnosis
When diagnosing syndactyly type 1, it's crucial to consider the following:
- Bilateral vs. Unilateral: Syndactyly type 1 can affect either hand or foot, and in some cases, both hands or feet may be affected [3][5].
- Simple vs. Complex: The condition can range from simple (involving soft tissues only) to complex (involving bone or nail of adjacent fingers) [6][10].
References
[1] by S Malik · 2012 · Cited by 211 [2] by A Cassim · 2022 · Cited by 10 [3] Jul 25, 2022 [4] by H Ahmed · 2017 · Cited by 88 [5] Syndactyly is a condition in which children are born with fused or webbed fingers. About half of children with syndactyly have it in both hands (bilateral). [6] Mar 1, 2024 [7] by D Jordan · 2012 · Cited by 99 [8] Pathogenic sequence mutations in the HOXD13 gene also causes different limb phenotypes such as SPD1, syndactyly type I-c, BDA4 (MIM 112190), and others. [9] Genetic Factors Underlying the Differential Phenotypes of Syndactyly. ... affect other gene’s normal functions that could possibly results in differential phenotypes of SD. [10] Syndactyly is the most common congenital malformation of the limbs and is characterized by abnormal connections of digits of the hand. Diagnosis is made clinically. Treatment is usually digit release ... and thumb-index) at 6mths because of differential growth rates between ring-little and between thumb-index digits.
Additional Information
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_6136
- owl#annotatedSource
- t384210
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0111816
- core#notation
- DOID:0111816
- oboInOwl#hasDbXref
- ORDO:93402
- IAO_0000115
- A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36.
- oboInOwl#hasExactSynonym
- syndactyly, type 1, with or without craniosynostosis
- rdf-schema#label
- syndactyly type 1
- rdf-schema#subClassOf
- t384195
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- relatedICD
- http://example.org/icd10/Q70
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
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.