A patient with a deletion in 3p (short arm of chromosome 3, 3p25) may have a number of phenotypic features.


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


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