Table 1.

Clinical Findings in 13 Probands and 2 Siblings With CAH-X Syndrome

Patient No.	Sex and Age, y	CAH Phenotype	Hypermobility Scoreb	Other Joint Symptoms	Skin Findings	Additional Clinical Features
Patient 1	F/8	SW	6	Hypermobile fingers	Normal	LV diverticulum; chronic constipation; pes planus, piezogenic papules
Patient 2	F/8	SW	8	Hypermobile fingers; hip laxity	Normal	Quadricuspid aortic valve; bifid uvula; single kidney; pes planus; plantar fasciitis; scoliosis
Patient 3	F/9	NC	6	None	Easy bruising	Pes planus; piezogenic papules
Patient 4	M/9	SW	8	Hypermobile fingers; hip laxity	Easy bruising; loose skin	Gross motor delay; gastroesophageal reflux; rectal prolapse; elongated uvula with midline crease; piezogenic papules
Patient 5	M/15	SW	0	None	Striae	RV and LA enlargement
Brother of patient 5	M/12	SW	3	Hip laxity	Normal
Patient 6	M/17	SW	5	Hypermobile fingers; multiple subluxations; chronic right knee pain	Extensive striae
Patient 7	F/18	SV	4	Hypermobile fingers; multiple subluxations; chronic arthralgiaa; chronic tendonitis	Wide scars; androgenic alopecia
Patient 8	F/18	SV	6	Hip laxity; dislocated knee; chronic arthralgiaa	Easy bruising; wide scars
Patient 9	M/18	SW	5	None	Normal	LV enlargement; RV enlargement with decreased systolic function; RA enlargement
Sister of patient 9	F/15	SW	1	Hypermobile shoulders	Normal
Patient 10	F/22	SW	2	Hypermobile fingers; chronic arthralgiaa	Easy bruising; thin skin; androgenic alopecia	LV enlargement
Patient 11	F/31	SW	2	Hip laxity; chronic arthralgiaa; shoulder subluxation	Easy bruising, wide scars	Diagnosed with fibromyalgia at age 24
Patient 12	M/31	SW	0	Hypermobile fingers; multiple subluxations	Easy bruising	Osteoporosis
Patient 13	M/32	SV	0	Chronic arthralgiaa	Normal	Elongated anterior mitral valve leaflet; cervical spondylosis and osteoarthritis at age 27 y; osteoporosis

Abbreviations: F, female; M, male; SW, salt wasting; SV, simple virilizing; NC, nonclassic; LV, left ventricle; RV, right ventricle; LA, left atrium; RA, right atrium.

^aArthralgia is at least 3 months' duration.

^bHypermobility score was assessed by the Beighton scale (9).