Mucopolysaccharidosis 2
MPS IVB is characterized by skeletal changes, including short stature and skeletal dysplasia.[centogene.com]
Abnormal retinal pigmentation and papilloedema - leading to visual impairment. Type B - mild form This usually presents later and may not be noticed until adulthood.[patient.info]
[…] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov]
Mucopolysaccharidosis
The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov]
pigment epithelium.[ncbi.nlm.nih.gov]
Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease.[ncbi.nlm.nih.gov]
Neuhauser Syndrome
Some affected individuals experience growth delays ultimately resulting in short stature.[rarediseases.org]
The clinical features of Refsum's disease include cerebellar ataxia and retinal dystrophy with pigment changes, bone-spicule formation, optic atrophy, and attenuated retinal[synapse.koreamed.org]
The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov]
Kearns-Sayre Syndrome
Short stature was common, being documented in 38% of cases. Gonadal dysfunction before or after puberty was also common (20% of cases) and affected both sexes equally.[ncbi.nlm.nih.gov]
The triad of progressive external ophthalmoplegia, atypical retinal pigmentation and cardiac conduction defects characterizes Kearns-Sayre syndrome (KSS), which is most often[ncbi.nlm.nih.gov]
Her face was an unexpressed-rounded and greasy one with an incomplete palpebral ptosis bilaterally (Figure 1), the nails and teeth were normal She was very thin owing to generalized[ispub.com]
Mucopolysaccharidosis 1
Although coarse facial features, short stature, skeletal dysplasia reminiscent of dysostosis multiplex, cardiac and respiratory disease as well as corneal clouding are universal[symptoma.com]
Figure 4 Retinal pigment epithelial changes in a 15-year-old patient with MPS IH/S Hurler/Scheie. A total of 13 patients with MPS IH Hurler had undergone ERGs.[nature.com]
This syndrome was initially described in 1996 with manifestations such as short stature, frequent ear infections, cleft palate, soft-tissue masses and acetabular erosions.[news-medical.net]
Autosomal Recessive Spastic Paraplegia Type 49
Syndrome 1 3q29 Microdeletion Syndrome Achondroplasia Acrocephalopolysyndactyly Type III Alpha-Thalassemia / Mental Retardation Syndrome, Chromosome 16-Related Asymmetric Short[familydiagnosis.com]
pigmentation. 18 29 77 78 On MRI the spinal cord may appear small, but other abnormalities are not usually seen.[jnnp.bmj.com]
This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[intechopen.com]
Aarskog-Scott Syndrome
At the age of 1.3 years, the child presented an unusual facial appearance and short stature.[doi.org]
[…] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com]
Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov]
Kniest Dysplasia
Families with skeletal dysplasias or short stature of known or suspected genetic basis will be enrolled.[clinicaltrials.gov]
Giant retinal macrocysts made flattening of thethinned, foreshortened, cystic retina difficult.[jamanetwork.com]
face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[rarediseases.info.nih.gov]
Barth Syndrome
Barth syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia.[ncbi.nlm.nih.gov]
[…] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com]
face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org]
Spondyloepiphyseal Dysplasia Type Cantú
Growth deficiency continues through childhood and results in disproportionate short stature.[rarediseases.org]
Pigment Epithelium Sequencing of all coding exons of the gene Deletion and duplication analysis - 1 PRPH2 Retinitis Pigmentosa Sequencing of all coding exons of the gene[cegat.de]
: long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org]