Table 2.

Phenotypic Characteristics of Individuals with PRDM5 Mutations from Families 914, K921, and K923

	901	902		914		K921	K923
	04a	03a	05a	04	06	03	03
Homozygous/heterozygous	hom	hom	hom	hom	hom	hom	hom
Corneal rupture	+		+	+ +	+
myopia	+	+	+	N/A	N/A	+	+
Blue sclera	+	+	+	+	+	+	+
Keratoconus				+			+
Keratoglobus	+					+
Megalocornea	+		N/A		N/A	+
Poor healing/abnormal scarring
Soft skin/easy bruising							+
Treatment for DDH			+
Femoral epiphyseal changes
Scoliosis	+						+
Small joint hypermobility	+	+	+			+	+
Fractures
Myalgia						+
Abnormal gait						+	+
Deafness	+
Hypercompliant TMs
Other features	SF SH	S CP	S CP			CO H JH	H SH GV JH PP TB
CCT <400 μm	N/A	+	N/A	N/A	N/A	N/A	+
CCT 400–550 μm	N/A		N/A	N/A	N/A	N/A

Affected, homozygous, individuals in each family are indicated. + indicates present; and empty box indicates not present. N/A indicates data not available.

The following abbreviations are used: DDH, developmental dysplasia of the hip; TM, tympanic membrane; CCT, central corneal thickness. H, hernia (inguinal, umbilical or epigastric); SF, severe scleral fragility; SH, skin hyperelasticity; S, sclerocornea; CP, cornea plana; CO, corneal opacity; JH, generalized joint hypermobility; GV, genu vara; PP, pes planus; TB, tibial bowing.

^aPatients described initially in Cameron et al. as Cases 2, 10 and 11.²⁰