Table 1.

Overview of Phenotypic Features

	Individual 1	Individual 2	Individual 3	Individual 4	Individual 5	Individual 6
Described by	Warburg et al.1	Cinotti et al.2	this paper	this paper	this paper	this paper
Age	57 years	58 years	31 years	8 years	3 years	35 years
Familial status	singleton individual	singleton individual	index mother	child of individual 3	child of individual 3	singleton individual
DDR2 variant	p.Leu610Pro	p.Tyr740Cys	p.Tyr740Cys	p.Tyr740Cys	p.Tyr740Cys	p.Leu610Pro
Narrow palpebral fissures	+	+	–	+	NR	+
Corneal vascularization	+++	+++	++	+	+	NR
Reduced vision	+++	+++	++	–	NR	NR
Thin nose ± small alae nasi	+	+	+	+	+	+
Long face	+	–	+	+	+	NR
High palate	+	NR	–	–	–	+
Abnormal teeth	+	+	–	–	–	+
Posteriorly rotated ears	+	+	+	–	–	NR
Thin ear cartilage	NR	NR	+	+	NR	NR
Conductive hearing loss	+	–	–	NR	NR	+
Cholesteatoma	+	NR	NR	+	NR	NR
Skin with little subcutaneous tissue	+	NR	+	+	NR	+
Keloid-like plaques	+	+	+	–	–	+
Follicular hyperkeratosis	NR	NR	+	–	+	+
Contractures	++	+++	++	+	+	+
Joint swellings	NR	NR	+	+	+	+
Acro-osteolysis	+	+	+	–	–	+
Palmar fibrotic bands / cutaneous fusions	NR	+	+	+	–	–
Loss of toenails / toes	+	+	+	–	–	+
Pneumothorax	+	–	–	–	–	+
Mitral valve insufficiency	NR	+	–	–	–	+
Hypothyroidism	NR	NR	+	–	–	+
Intestinal problems	+	NR	–	–	–	++

Abbreviations are as follows: + = present, with degree of presence indicated when appropriate; – = absent; and NR = not reported.