Table 1

Mowat–Wilson syndrome and mutation in ZFHX1B; clinical data.1,4–14

Clinical features12Total patients(S)% of total
1, patient 1 (male); 2, patient 2 (female); S, all 47 were sporadic cases, 32 of whom were males and 15 females; N, number of patients for whom data were available; NR, not relevant.
Facial characteristics
Sparse/fine hair++9/13(N)69.2
High, broad forehead/frontal bossing++9/1181.8
Medially flaring thick eyebrows++36/36100.0
Deepset eyes++36/36100.0
Downward slanting palpebral fissures++11/1573.3
Broad nasal bridge/saddle nose++42/4397.7
Small nose, round tip/prominent columella++28/2996.5
Open mouth++24/2885.7
Prominent pointed chin/triangular jaw++40/40100.0
Posterior lowset ears with uplifted lobes++36/36100.0
Other malformations and problems
Congenital heart disease+22/4746.8
Agenesis/hypoplasia of corpus callosum++15/3345.4
Renal anomalies+10/2737.0
Hypospadias+15 NR12/2548.0
Cryptorchidism+15 NR11/2544.0
Cleft submucous palate / high arched palate++10/2737.0
Dermatoglyphic anomalies++8/988.8
Tapered fingers++16/1984.2
Pes planus with calcaneovalgus++10/1190.9
Mental retardation++47/47100.0
Microcephaly (⩽3rd centile at last follow up)++40/4686.9
Short stature (<3rd centile at last follow up)+12/2941.4
Happy, affectionate personality++24/2596.0