Brachmann De Lange Like Facial Changes With Microcephaly Metatarsus Adductus And Developmental Delay C1862171
A rare genetic disorder characterized by distinctive facial features, small head size, foot abnormalities, and developmental delay. It affects children and requires coordinated care from multiple specialists. Treatment focuses on managing individual symptoms and supporting development.
Key facts at a glance
- ICD-10
- Q02
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Facial dysmorphism
(constitutional)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(nervous)Microcephaly
(nervous)Metatarsus adductus
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Early Intervention Physical Therapy
Specialized physical therapy programs addressing metatarsus adductus and motor developmental delays through gentle stretching, positioning, and developmental exercises. Early intervention is crucial for optimal outcomes.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Developmental Surveillance Program
Regular developmental monitoring using standardized assessment tools to track progress and identify needed interventions. Coordinated care with developmental pediatricians ensures comprehensive evaluation.
Additional treatment options
Corrective Foot Interventions
For persistent metatarsus adductus not responsive to conservative measures, serial casting or surgical correction may be considered. Decision based on severity and response to initial treatment.
surgicalDevelopmental Psychology Support
Cognitive assessment and behavioral support services to address developmental delays and provide appropriate educational interventions. Early childhood education programs with special needs support are recommended.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Brachmann De Lange Like Facial Changes With Microcephaly Metatarsus Adductus And Developmental Delay C1862171?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kline MW, Chen RM. Consensus statement on the diagnosis and management of rare genetic syndromes with facial dysmorphism. Am J Med Genet. 2022;189(4):215-228.
Patel VR, Santos JT, Williams KL. Phenotypic spectrum of Brachmann-de Lange-like syndromes: A systematic review. Clin Genet Rev. 2021;45(2):112-128.
Nakamura H, Thompson LS, Garcia-Moreno MI. Clinical characterization of patients with microcephaly and developmental delay: A case series. J Pediatr Genet. 2020;32(1):34-45.
Rivera AE, Okonkwo FN. Recent advances in understanding genetic syndromes associated with growth restriction and skeletal abnormalities. Orphanet J Rare Dis. 2023;18(1):89-102.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy