Version May 2024
| Syndrome | Clinical features (in addition to macrocephaly) |
| Predominantly cutaneous syndromes | |
| Tuberous sclerosis 1* MIM #191100 | Facial angiofibromas, shagreen patch, hypopigmented macules, periungual fibromas, gingival fibromas |
| Neurofibromatosis type 1* MIM #162200 | Café-au-lait spots, axillary freckling, dermal neurofibroma, short stature, Lisch nodules |
| Linear epidermal nevus syndrome MIM #163200 | Asymmetric overgrowth, coloboma (eyelids, iris, choroid), linear nevus sebaceous; associated with basal cell carcinoma |
| Klippel-Trenaunay-Weber MIM %149000 | Large cutaneous hemangioma with hypertrophy of related bones and soft tissues; syndactyly; polydactyly |
| Proteus MIM #176920 | Asymmetric, disproportionate overgrowth of body parts, epidermal nevi, hypertrophy of skin of soles, hemangioma (thorax, upper abdomen) |
| Megalencephaly-capillary malformation-polymicrogyria syndrome MIM #602501 | Vascular mottling of the skin; congenital telangiectasias, syndactyly of second and third toes; polydactyly; asymmetry of the head, face, or body; nevus flammeus of the lip and/or philtrum; overgrowth with prenatal onset |
| Nevoid basal cell carcinoma syndrome* (Gorlin syndrome) MIM #109400 | Frontoparietal bossing, broad nasal bridge, coarse facial features, highly arched eyebrows, pouting lower lip; odontogenic keratocysts of the mandible and maxilla; increased risk of basal cell carcinoma |
| PTEN hamartoma tumor syndromes | |
| Cowden syndrome* (including Lhermitte-Duclos syndrome and Bannayan-Riley-Ruvalcaba syndrome) MIM #158350 | Birdlike facies; hypoplastic mandible and maxilla; cataract; microstomia; high-arched palate; pectus excavatum; genitourinary anomalies; skin tags; lipomas; subcutaneous nodules |
| Predominantly overgrowth syndromes | |
| Sotos MIM #117550 | High prominent forehead, down-slanting palpebral fissures, long pointed chin, high-arched palate; tall stature and advanced bone age; normal adult height |
| Weaver* MIM #277590 | Accelerated growth with prenatal onset, advanced bone age, broad forehead, flat occiput, long philtrum, camptodactyly, broad thumbs, loose skin, deep-set nails; deep palmar and plantar creases |
| Simpson-Golabi-Behmel MIM #312870 | Accelerated growth with prenatal onset (weight more affected than height), coarse facial features, down-slanting palpebral fissures, thickened lips, wide mouth, large tongue, high-arched palate, prominent jaw, short neck, supernumerary nipples, hepatomegaly |
| Beckwith-Wiedemann* MIM #130650 | Omphalocele (or other umbilical abnormalities), hemihypertrophy, coarse facial features, macroglossia, neonatal macrosomia, neonatal hypoglycemia, increased risk of certain tumors (eg, Wilms tumor, hepatoblastoma) |
| Neuro-cardiofaciocutaneous syndromes¶ | |
| Noonan* MIM #163950 | Short stature (postnatal onset), congenital heart defects (atrial septal defect, ventricular septal defect, pulmonic stenosis), webbed neck, abnormal chest, hypertelorism, down-slanting palpebral fissures, epicanthal folds, deafness (sensorineural); deeply grooved philtrum |
| LEOPARD* MIM #151100 | Lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, deafness (sensorineural) |
| Costello* MIM #218040 | Poor weight gain, short stature, developmental delay, coarse facial features, deep palmar and plantar creases, papillomata, cardiac abnormalities, risk for tumors |
| Cardiofaciocutaneous MIM #115150 | Cardiac abnormalities (atrial septal defect, pulmonic stenosis, hypertrophic cardiomyopathy), cutaneous abnormalities (ichthyosis, hyperkeratosis, hemangioma), postnatal short stature, prominent forehead, bitemporal narrowing, coarse facial features, prominent philtrum, down-slanting palpebral fissures, short upturned nose |
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