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Table 1 Clinical features in patients with 20p12.3 deletion

From: 20p12.3 deletion is rare cause of syndromic cleft palate: case report and review of literature

First author of reference Deletion Congenital abnormalities
Our patient De novo 20p12.3 deletion Failure to thrive, psychomotor delay
Small forehead, hypertelorism, downslanting palpebral fissures, low set ears, broad nasal bridge, bulbous nose, short philtrum, down turned corners of the mouth, microstomia, micrognathia, widespread tooth decay, dental overlapping
Cleft palate, bifid uvula
Lalani et al. [8] Patient 1 De novo 20p12.3 deletion Failure to thrive, Neurocognitive delay
Downslanting palpebral fissures, bilateral epicanthal folds, broad nasal root and bridge, malar hypoplasia, full cheeks, microstomia, Persistent fetal pads
Wolff parkinson white syndrome
Patient 2 Maternal 20p12.3 deletion Short stature, Macrocephaly, Neurocognitive delay, motor delay
Frontal upsweep, downslanting palpebral fissures, epicanthal folds, hypertelorism, small ears with thickened helices, long philtrum, microstomia,
Broad thumbs/toes with persistent fetal pads
Wolff parkinson white syndrome
Patient 3 De novo 20p12.3 deletion Macrocephaly, Neurocognitive delay, motor delay
Hypertelorism, malar hypoplasia, persistent fetal pads
Sahoo et al. [9] Patient 1 Maternal 20p12.3 deletion Failure to thrive, microcephaly micrognathia, Pierre Robin sequence, large communicating fontanelles, long philtrum, pectus excavatum, diastasis recti, gap between halluces and second toes, vertical creases, deep palmar flexion creases, short 5th fingers
Cleft palate
Patent foramen ovale
Patient 2 ? Failure to thrive, microcephaly, language deficits
Large eyes, synophrys, long philtrum, upturned nose, microstomia
Deafness, cholesteatoma
Cleft palate, high-arched hard palate, bifid uvula
Zygodactylous triradius between the 2nd and 3rd rightoes
Patient 3 De novo 20p12.3 deletion Failure to thrive, motor deficits with a head lag and wobble, delayed/poor reflexes, central hypotonia and feeding difficulties
Flat facial profile, prominent forehead, downslanting palpebral fissures, depressed nasal bridge, small, upturned nose with anteverted nares, pinpoint hemangioma on the tip of the nose, long philtrum, micrognathia, transverse crease across the chin
Decreased muscle mass, subtle hyperextensibility of hands and feet, recurrent hip dislocations and developmental dysplasia of the hips
U-shaped cleft palate
Williams et al. [7] Paternal 20p12.3 deletion Failure to thrive, microcephaly, psychomotor delay, microretrognathia, widened palpebral fissures, long philtrum, digital hypoplasia of second and third toes, self-stimulatory behaviors, mild dextroscoliosis, central incisors, bifid uvula, cleft palate
  1. Words in italics represents features in common with our patient