Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, [ncbi.nlm.nih.gov]

Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic limb shortening, congenital cataracts, distinct facial features, severe intellectual disability, [ctgt.net]

Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). [emedicine.medscape.com]

People with RCDP have very poor growth and often develop joint deformities ( contractures ) that make the joints stiff and painful. [rarediseases.info.nih.gov]

Painful joint contractures, poor growth, cataracts developing in infancy, hearing loss, and seizures also occur frequently. [secure.ssa.gov]

Babies with RCP usually have shortening of the upper arms and legs, joint contractures (stiff joints), poor growth, cataracts, dry skin and severe developmental delays. [angelfire.com]

One child, presenting with developmental delay and poor growth, subsequently developed retinitis pigmentosa and peripheral neuropathy, features overlapping those of adult Refsum disease [ Braverman et al 2002 ]. [ncbi.nlm.nih.gov]

Throughout, the approach of OTM is humane and ethical and, at the same time, factual, reliable, honest(especially where knowledge is limited) and rigorously scientific. This is not just a textbook of "First World" medicine. [books.google.com]

Recurrent respiratory tract infections are common due to neurological causes, aspiration, immobility, and a small chest with limited excursion. [physio-pedia.com]

Respiratory infections such aspneumonia, and aspiration (inhaling liquids or solids into the lungs) may affect sufferers. Some children have heart defects. Cataracts can be removed in infancy through surgery. [geneticdisordersuk.org]

Pneumonias and upper respiratory infections are most frequent, while aspirations are also fairly common. Temperature: Infants with RCP often seem to perspire easily and may overheat. [angelfire.com]

Most children with RCDP1 have recurrent respiratory tract infections caused by neurologic compromise, aspiration, immobility, and a small chest with restricted expansion. [ncbi.nlm.nih.gov]

The patient was admitted to the hospital at 11 months of age with a phenotype similar to that of her brother who had died at 2 years of age: short proximal arms, bilateral cataracts, developmental delay, failure to thrive, gastroesophageal efflux, microcephaly [gepedia.com]

[…] sepsis • Weight at death 2.5 kg (Failure to thrive) 6. Second Child • Antenatal history - ? Polyhydramnios • Term born/3.5kgs/Respiratory distress at birth Nicu stay x 20 days. [slideshare.net]

All affected infants have severe failure to thrive, mental retardation, joint contractures, and cataracts. [mhmedical.com]

Many infants are additionally diagnosed with "failure to thrive" (small size due to inadequate nutritional intake) but their small size is simply part of the disorder. [angelfire.com]

Affected infants may fail to grow and gain weight at the rate expected for age and gender (failure to thrive). Growth deficiencies may ultimately result in a final adult height that is below normal (short stature). [rarediseases.org]

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched [ncbi.nlm.nih.gov]

People with RCDP have very poor growth and often develop joint deformities ( contractures ) that make the joints stiff and painful. [rarediseases.info.nih.gov]

People with chondrodysplasia punctata Rhizomelic often develop joint deformities or contractures, leading to stiff and painful joints. [ivami.com]

Short stature Shortening of upper arms and thighs Joint deformities Distinct facial features Clouding of the lens of the eye (cataracts) Delayed intellectual development Respiratory issues *Please be aware, not all of the characteristics may be present [littlepeopleuk.org]

People with rhizomelic chondrodysplasia punctata often develop joint deformities (contractures) that make the joints stiff and painful. Distinctive facial features are also seen with rhizomelic chondrodysplasia punctata. [ghr.nlm.nih.gov]

Similar symptoms have been observed in patients with hypergammaglobulinemia type D and periodic fever syndrome in addition to skin rash and arthralgias. [emedicine.medscape.com]

In reference to the distinctive facial features include: prominent forehead, hypertelorism, midface hypoplasia, a small nose pointing upwards and prominent cheeks. [ivami.com]

[…] chondrodysplasia punctata- type 3 Slow growth Mental retardation Spasticity Small head Low nasal bridge Causes - Rhizomelic chondrodysplasia punctata- type 3 Incorrect formula preparation Abnormal feeding habits Behavioural problems affecting feeding Neglect [checkorphan.org]

Siblings: Meeting the needs of all your children, while not neglecting your own, is one of the challenges facing parents of children with RCP. It is also one of the world's greatest balancing acts. [angelfire.com]

RCDP sufferers have severe learning difficulties. The condition can be life-limiting at an early age. RCDP is classed as ‘peroxisomal’ disorder. [geneticdisordersuk.org]