[…] dysplasia Multiple pterygium syndrome (Escobar syndrome) Multiple synostoses syndrome (facio-audio-symphalangism) Myhre syndrome Nail-patella syndrome Neu-Laxova syndrome Oligohydramnios sequence Oto-palato-digital syndrome type I Pachydermoperiostosis Pallister-Hall [rrnursingschool.biz]

Otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 Otospondylomegaepiphyseal dysplasia PMM2-CDG Pachydermoperiostosis Pachygyria-intellectual disability-epilepsy syndrome Pacman dysplasia Pai syndrome Pallister-Hall [se-atlas.de]

walking Prognosis May live many years Early degenerative joint disease develops Death may occur before the age of 20 due to chest infections or cardiac complications 2. [flinders.edu.au]

Limited joint mobility Limited joint motion [ more ] 0001376 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Slender long bone Long bones slender Thin long bones [ more ] 0003100 30%-79% of people have these symptoms Blue [rarediseases.info.nih.gov]

sclerae 60 33 frequent (33%) Frequent (79-30%) HP:0000592 10 sacrococcygeal pilonidal abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0010767 11 arthrogryposis multiplex congenita 33 HP:0002804 Clinical features from OMIM: 602484 MalaCards organs [malacards.org]

[…] joints Limited joint mobility Limited joint motion [ more ] 0001376 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Slender long bone Long bones slender Thin long bones [ more ] 0003100 30%-79% of people have these symptoms Blue [rarediseases.info.nih.gov]

sclera throughout life Presenile hearing loss in 40% Fractures at birth in 10% Kypho-scoliosis in 20% II (1/62,000) Congenita Autosomal recessive Blue sclera Extreme bone fragility Often intrauterine or neonatal death III (Rare) Congenita (tarda) Autosomal [flinders.edu.au]

Download a 200K clip of achondrogenesis Osteogenesis imperfecta is a genetically heterogeneous group of disorders presenting with fragility of bones, blue sclerae, loose joints and growth deficiency. [sonoworld.com]

Type I collagen is the principal structural protein of bone, dentin, and sclera, hence the association (and clinical subclassification) of osteogenesis imperfecta with dentinogenesis imperfecta and blue sclerae. [musculoskeletalkey.com]

nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280 3 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202 4 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376 5 hypoplastic pelvis [malacards.org]

Showing of 11 80%-99% of people have these symptoms Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Gait disturbance Abnormal [rarediseases.info.nih.gov]

Diseases related with Depressed nasal bridge and Falls In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Falls that can help you solving undiagnosed cases. [mendelian.co]

The characteristic features of heterozygous achondroplasia include short limbs, lumbar lordosis, short hands and fingers, macrocephaly with frontal bossing and depressed nasal bridge. [sonoworld.com]

If COL11A1 on Ch1, called Marshall's syndrome Feats: - orofacial dysmorphism (flat midface, depressed nasal bridge, short nose with anteverted nares, Pierre Robin sequence) - ophthalmologic abNs (AbN architecture of the vitreous gel, high myopia, frequently [quizlet.com]

Showing of 11 80%-99% of people have these symptoms Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Gait disturbance Abnormal [rarediseases.info.nih.gov]

gait Abnormal walk Impaired gait [ more ] 0001288 Hypoplastic pelvis 0008839 Limitation of joint mobility Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ] 0001376 Skeletal muscle atrophy Muscle [rarediseases.info.nih.gov]

abnormal gait Browse Doctors achilles tendonitis Our Approach Browse Doctors achilles tendon rupture Browse Doctors achondroplasia Our Approach Browse Doctors ankle arthritis Our Approach Browse Doctors ankle injuries Browse Doctors ankylosing spondylitis [nyulangone.org]