Overview
Macrocephaly is a finding that may indicate an underlying health condition requiring clinical evaluation.
Associated Conditions
Conditions associated with this symptom based on HPO disease-phenotype annotations.
Morquio syndrome
Occasional (5-29%)
Fragile X syndrome
Frequent (30-79%)
Lenz-Majewski hyperostosis syndrome
Very frequent (80-99%)
Achondrogenesis
Very frequent (80-99%)
Agenesis of corpus callosum
Hecht syndrome
Occasional (5-29%)
Juvenile polyposis syndrome
Occasional (5-29%)
Killian-Teschler-Nicola syndrome
Very frequent (80-99%)
Hyperphosphatasemia with bone disease
Very frequent (80-99%)
Macroencephaly
Very frequent (80-99%)
Achondrogenesis, type IB
Very frequent (80-99%)
Familial amyloid nephropathy with urticaria AND deafness
Occasional (5-29%)
Mucopolysaccharidosis, MPS-III-D
Always present (100%)
Sturge-Weber sequence
Occasional (5-29%)
Borjeson-Forssman-Lehmann syndrome
Occasional (5-29%)
Glutaric aciduria, type 2
Very rare (1-4%)
Proteus syndrome
Occasional (5-29%)
Sandhoff disease
Very frequent (80-99%)
Metaphyseal chondrodysplasia, Jansen type
Frequent (30-79%)
Thanatophoric dysplasia
Very frequent (80-99%)
Holoprosencephaly sequence
Occasional (5-29%)
Greig cephalopolysyndactyly syndrome
Very frequent (80-99%)
Sialic acid storage disease, severe infantile type
Frequent (30-79%)
Craniometaphyseal dysplasia
Achondrogenesis, type IA
Very frequent (80-99%)
Related Symptoms
Birth HC = < 3rd centileBirth HC = 3rd-9th centileBirth HC = 10th-24th centileBirth HC = 25th-49th centileBirth HC = 50th-74th centileBirth HC = 75th-89th centileBirth HC = 90th-96th centileFinding of measures of head circumferenceChild head circumference centile findingAbnormal head circumference in relation to growth / age standard
Quick Facts
- SNOMED CT
- 1145403003
- UMLS CUI
- C2243051
- Fully Specified Name
- Macrocephaly (finding)
- Associated Conditions
- 25
- Diagnostic Tests
- 0
This information is for educational purposes only. If you are experiencing symptoms, please consult a healthcare provider for proper evaluation and diagnosis.