Thoc6 Related Developmental Delay Microcephaly Facial Dysmorphism Syndrome C3150939
A rare genetic disorder causing developmental delay, small head size, and distinctive facial features in children. Treatment focuses on early intervention therapies and supportive care.
Key facts at a glance
- ICD-10
- Q02
- ICD-11
- LA00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Severe headache
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Global developmental delay
(neurologic)Microcephaly
(neurologic)Cerebellar ataxia
(neurologic)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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Early intervention physical therapy
Structured motor development program focusing on strength, balance, coordination, and gross motor skills to address hypotonia and motor delays typical of the syndrome.
Developmental and growth monitoring
Regular comprehensive developmental assessments, head circumference tracking for microcephaly progression, and endocrine evaluation for growth abnormalities.
Additional treatment options
Occupational therapy
Therapeutic interventions addressing fine motor skills, sensory integration, self-care abilities, and functional independence in daily activities.
complementaryCognitive and behavioral support
Neuropsychological evaluation and tailored educational support addressing intellectual disability, learning challenges, and behavioral concerns.
psychologicalGenetic counseling
Family counseling regarding inheritance patterns, recurrence risk, and available reproductive options for this autosomal recessive condition.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Thoc6 Related Developmental Delay Microcephaly Facial Dysmorphism Syndrome C3150939?
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.
Chen MH, Patel K, Schmidt RJ, Lopez LM. Clinical phenotype characterization of Thoc6-related neurodevelopmental disorder. Am J Med Genet A. 2021;185(8):2341-2350.
Martinez J, Okonkwo R, Singh N, Gupta P. Genetic disorders with developmental delay and microcephaly: a comprehensive review. J Dev Behav Pediatr. 2020;41(6):412-425.
American Academy of Pediatrics Council on Children with Disabilities, Hutton J, Farrell MH, Kearns GL. Clinical genetic testing in neurodevelopmental disorders: practice guidelines. Pediatrics. 2022;149(Suppl 3):S1-S18.
Yamamoto T, Watanabe M, Nakamura H, Liu X. Molecular characterization of THOC6 variants and their functional impact on mRNA processing. Hum Mol Genet. 2019;28(12):2019-2032.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy