Marc

Marc is undiagnosed
Marc is undiagnosed
Date of Report

Marc

Arthrogryposis multiplex congenita (multiple contractures) including clubfeet, spina bifida (sacral), congenital hypotonia, congenital scoliosis, obstructive sleep apnea requiring non-invasive ventilation at night, constipation...

Gender and year of birth

Male, 2005


Description

Arthrogryposis multiplex congenita (multiple contractures) including clubfeet, spina bifida (sacral), congenital hypotonia, congenital scoliosis, obstructive sleep apnea requiring non-invasive ventilation at night,  constipation, delayed emptying of stomach, nausea, , food allergies, bilateral cryptorchidism, short stature, osteopenia with fractures. 


Symptoms / Signs

  • Developmental delays: first able to stand at 2,5 years of age, cruised (walked holding on furniture) at 4 years. Because of leg fractures (3 in total, at ages 1, 2 and 13 years) does not walk anymore, mainly because of fear and pain.

Current Treatments

  • Non-invasive ventilation at night, needs manual assistance when stooling. Medications include Nexium (esomeprazole for reflux), Gaviscon (antacid), Calcium supplements and IV Pamidronate for osteopenia, Forlax (macrogol laxative), antihistamine.

Prior Treatments

  • Several surgeries: e.g. bilateral orchidopexy for undescended testes, tympanostomy tube placement, Achilles tendon surgery

Considered treatments

  •  Surgerical correction of scoliosis not performed because of several contraindications: osteopenia, expected very long rehabilitation, and risks of anesthesia for pulmonary function

Previously Considered Diagnoses

  • Not applicable

Genetic Variants of Interest

  • whole exome sequencing trio: CSMD2 Chr1(GRCh37):g.34023366C>T; NM_001281956.1:c.8711G>A (p.Gly2904As) heterozygous, de novo variant, interpreted as variant of unknown significance. DA2B, FSS, MYH3 testing negative. SNP array negative.

Siblings, age & gender

Girl, 10 years


Contact

If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org


Bio

Marc likes to make fun. On television, I like to watch Monster jam, Dakar and tractor pulling. I like to play with Monster Jams 1:64


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