Conditions		Enlarged fontanel	Delayed closure
Most common
Achondroplasia		✓	✓
Congenital hypothyroidism		✓	✓
Down syndrome		✓	✓
Increased intracranial pressure		✓	✓
Normal variation		✓	✓
Familial macrocephaly			✓
Rickets		✓	✓
Less common
Skeletal disorders
	Acrocallosal syndrome (seizures, polydactyly, mental retardation)		✓
	Apert's syndrome (craniosynostosis, proptosis, hypertension)	✓	✓
	Campomelic dysplasia (prenatal growth deficiency, large cranium, bowed legs)		✓
	Hypophosphatasia (polyhydramnios, short, deformed limbs, soft skull)	✓	✓
	Kenny-Caffey syndrome (hypoparathyroidism, dwarfism, macrocephaly)	✓	✓
	Osteogenesis imperfecta (shortened limbs, wormian calvarial bones)	✓	✓
Chromosomal abnormalities
	Trisomy 13 (polydactyly, microcephaly, cleft lip and palate)	✓	✓
	Trisomy 18 (growth retardation, small cranium, open metopic suture)	✓	✓
Congenital infections
	Rubella (low birth weight, cataracts, “blueberry muffin” skin lesions)	✓	✓
	Syphilis (saddle nose deformity, joint swelling, maculopapular rash)	✓	✓
Drugs and toxins
	Aminopterin-induced malformation (craniosynostosis, absences of frontal bones, hypertelorism)	✓	✓
	Fetal hydantoin syndrome (microcephaly, broad nasal bridge, hypoplasia of nails)	✓	✓
Dysmorphogenetic syndromes
	Beckwith-Wiedemann syndrome (macrosomia, abdominal wall defect, macroglossia)	✓	✓
	Zellweger syndrome (high forehead, flat occiput, abnormal ears, hypotonia)	✓	✓
	Cutis laxa (pendulous skin folds, hoarse cry)	✓	✓
	VATER association (vertebral defects, anal atresia, tracheoesophageal fistula, renal dysplasia)	✓	✓
	Otopalatodigital syndrome (frontal bossing, broad terminal phalanges, syndactyly)		✓
Miscellaneous
	Malnutrition (poor weight gain, asymmetric growth)	✓	✓
	Hydranencephaly (macrocephaly, thinned skull vault, primitive reflexes preserved)	✓
	Intrauterine growth retardation (birth weight less than 2 standard deviations below mean)	✓