General clinical features:
(1) prenatal growth deficiency
(2) failure to thrive
(3) severe mental retardation
(4) hypotonia
Dysmorphic facial features:
(1) microcephaly
(2) short and/or upslanting palpebral fissures
(3) flat occiput
(4) bilateral ptosis
(5) synophrys (eyebrows coming together/merging)
(6) small nose with anteverted nares
(7) prominent nasal bridge
(8) malformed ears
(9) micrognathia
(10) downturned corners of mouth
(11) epicanthal folds
(12) long philtrum
(13) ocular hypertelorism
(14) preauricuclar pits or fistula
(15) cleft palate
Other findings:
(1) post-axial polydactyly of hands
(2) cardiac defects
(3) inguinal and/or umbilical hernias
(4) hiatal hernia
(5) renal anomalies
(6) cryptorchidism
(7) poor sucking with poor feeding
(8) persistent central and obstructive apnea
(9) gastroesophageal reflux with aspiration pneumonia
(10) scoliosis
(11) anteriorly placed anus
