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Table 3 Dysmorphic features in individuals with SHANK3 mutations

From: Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

  S1a S2 S3 S4 S7 S8 S10 S11 S12 S13 S14 Total (%)
Gender M M M F F M M F F M M 7 M, 4 F
Age at examination (years) 12 5 7 3 7 9 9 6 42 15 4 3–42
Craniofacial features
 Microcephalyb + 1/11 (9%)
 Macrocephalyc + 1/11 (9%)
 Dolichocephaly + 1/11 (9%)
 Synophrys 0
 Sparse eyebrows + + 2/11 (18%)
 Long eyelashes + + + + + + + + 8/11 (73%)
 Periorbital fullness + + + + 4/11 (36%)
 Deep set eyes + + + + + 5/11 (45%)
 Ptosis 0
 Epicanthal folds + + + + + 5/11 (45%)
 Hypertelorism 0
 Wide nasal bridge + + + + + + 6/11 (55%)
 Bulbous nose + + + + + + 6/11 (55%)
 Anteverted nares + 1/11 (9%)
 Full cheeks + + 2/11 (18%)
 Malar hypoplasia + + + + + 5/11 (45%)
 Thin upper vermillion + + + 3/11 (27%)
 Thick lower vermillion + + + 3/11 (27%)
 Short philtrum 0
 Long philtrum + + + 3/11 (27%)
 Malocclusion + + + + + + + 7/11 (64%)
 High arched palate + + + + NE + + 6/10 (60%)
 Ear anomalies + (low set ears) + (overfolded helix) + (fleshy ears) + (prominent ears) 4/11 (36%)
 Micrognathia 0
 Macrognathia + + + 3/11 (27%)
 Pointed chin + + + + + + + 7/11 (64%)
Hand and feet anomalies
 Large fleshy hands + + + 3/11 (27%)
 5th finger clinodactyly + + + + + + + + + 9/11 (82%)
 Partial syndactyly of toes 2–3 + + + + + 5/11 (45%)
 Sandal gap + + + NE + + NE + 6/9 (67%)
 Hypoplasia of distal phalanges of 5th finger + + 2/11 (18%)
Ectodermal anomalies
 Hypertrichosis 0
 Abnormal hair whorl + + 2/11 (18%)
 Hypoplastic/dysplastic toenails + + + + + + 6/11 (55%)
 Hypoplastic/dysplastic fingernails + + 2/11 (18%)
Other features
 Short stature/delayed growthd + + + 3/11 (27%)
 Tall stature/accelerated growthe 0
 Hyperextensibility + + + + NE + + 6/10 (60%)
 Sacral dimple NE 0
 Scoliosis + 1/11 (9%)
Total dysmorphic features 15 16 5 18 10 9 10 6 11 17 11 11/11 (100%)
  1. Only individuals that underwent a detailed evaluation by a clinical geneticist are shown
  2. + present, − absent, F female, M male, NE not evaluated
  3. aS1 also has a de novo pathogenic 17q12 microduplication [62]
  4. bHead circumference < 3rd percentile
  5. cHead circumference > 98th percentile
  6. dHeight < 3rd percentile
  7. eHeight > 98th percentile