Table 2.

Phenotype of CODAS-Syndrome-Affected Children Homozygous for LONP1 c.2161C>G (p.Arg721Gly)

Agea	14.2b	4.6	1.2	0.6
Gender	F	M	F	M
Cerebral
Hypotonia and motor delay	+	+	+	+
Intellectual disability	+	+	n/a	n/a
Epilepsy	+	−	−	−
Ocular
Ptosis	+	+	+	+
Cataractsc	+	+	+	+
Dental
Delayed tooth eruption	+	+	n/a	n/a
Enamel dysplasia	+	+	n/a	n/a
Auricular
Scapha and helix dysplasia (“Crumpled” Ears)	+	+	+	+
Conductive hearing loss	n/a	+	+	+
Sensorineural hearing loss	+	+	−	−
Skeletal
Short stature	+	+	+	+
Metaphyseal dysplasia	+	+	+	+
Epiphyseal hypoplasia and delayed ossification	+	+	+	+
Scoliosis	+	+	+	+
Genu valgus	+	+	+	+
Pes valgus	+	+	n/a	n/a
Vertebral coronal clefts	+	+	n/a	n/a
Dens hypoplasia	+	+	n/a	n/a
Other
Grooved nasal tip	+	+	+	+
Anteverted nares	+	+	+	+
Tracheostomy	+	+	+	+
Vocal-cord paresis	−	+	+	+
Endocardial cushion (atrial septum defect)d	−	+	+	−
Gastresophageal reflux	−	+	−	+
Gastrostomy tube feeding	−	+	+	+
Omphalocele	−	−	−	+
Imperforate anus	+	−	−	+
Rectovaginal fistula	+	−	−	−
Cryptorchidism	n/a	+	n/a	−
Tongue hemiatrophy	−	+	−	+

Abbreviations are as follows: F, female; M, male; n/a, not applicable because age or clinical data were not available.

^aLimited clinical data are available for four of eight children who had CODAS syndrome and died in the perinatal period as a result of respiratory complications (these children are not represented in Table 1). Two had omphalocele.

^bDied at 14.2 years of age as a result of accidental trauma.

^cDense nuclear cataracts develop rapidly between 2 and 6 months of age.

^dTwo surviving children with CODAS syndrome have atrial septal defects; two who died perinatally had atrioventricular canal defects. The total incidence of congenital heart disease was 50%.