Create issue ticket

217 Possible Causes for Desbuquois Dysplasia, Loss of Vision, Thick Lips

  • Immunodeficiency Type 23

    […] resembling Desbuquois dysplasia.[] Symptoms include hypotonia, feeding difficulties, vision problems, and hearing loss. Severe psychomotor disability and drug-resistant seizures have also occurred.[] Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability.[]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    (Spondyloepiphyseal dysplasia, Rolland - Desbuquois dysplasia, Wolcott-Rallisson syndrome, Dyggve-Melchior-Clausen syndrome) Heterogeneous group of rare disorders, characterized[] […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 5%-29% of people have these symptoms Cataract Clouding of the lens[] About one quarter of people with this condition have hearing loss. [ Read More ][]

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[] Severe nearsightedness (high myopia) is common, as are other eye problems that can impair vision. About one quarter of people with this condition have hearing loss. 26.[] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[]

  • Kanzaki Disease

    Dentinogenesis imperfecta, Shields type II ( DSPP) Dentinogenesis imperfecta, Shields type III ( DSPP) Denys-Drash syndrome ( WT1) Dermatopathia pigmentosa reticularis ( KRT14) Desbuquois[] […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 Tinnitus Ringing in ears Ringing in the ears [ more ] 0000360 Percent[] Neurological issues may become a problem such as: physical and mental change in behaviors, muscle weakness, loss in vision, and uncontrollable, rapid eye movements.[]

  • Neuronal Ceroid Lipofuscinosis

    dysplasia Desbuquois syndrome Desmin-related myofibrillar myopathy Desmin-related myopathy with Mallory body-like inclusions Desminopathy Desmoid tumor Desmoid type fibromatosis[] , gingival hypertrophy, macroglossia, and thickening of the lips and nasal alae.[] He showed mental retardation and visual impairment in the first decade which gradually developed along with motor dysfunction for over 40 years.[]

  • Winchester Syndrome

    dysplasia XYLT1 Desbuquois dysplasia type 2[] lips - Thick skin / pachydermia / orange skin - Thickened / hypertrophic / fibromatous gingivae Occasional - Atrial septal defect / interauricular communication - Subcutaneous[] ATP6V0A2 Cutis laxa, 2A B3GALT6 SEMD-JL Beighton B3GAT3 Larsen-like, recessive B4GALT7 EDS, progeroid BMP1 OI, recessive CANT1 Desbuquois CHST14 EDS, contractural CHST3 Larsen[]

  • High Myopia-Sensorineural Deafness Syndrome

    Rolland-Desbuquois type Isolated growth hormone deficiency type 3 Occipital horn syndrome Chromosome 10p deletion Osteogenesis imperfecta type VI Brachydactyly preaxial with[] In this situation, parents often have the impression that the child is not significantly visually impaired, when that is not the case.[] Further examination revealed prominent upper incisors and thick lips.[]

  • Hypertrichotic Osteochondrodysplasia

    […] epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker[] impairment secondary to retinal dystrophy along with marked photophobia in the absence of night blindness.[] […] eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick vermilion border Full lips Increased volume of lip Plump lips[]

  • Schneckenbecken Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[] impairment.[] A severely hydropic fetus with a swollen face with a bipartite nose, thick lips, narrow thorax and micromelic limbs were noted at postmortem examination.[]

  • Lenz-Majewski Syndrome

    dysplasia 2 Sequencing of all coding exons of the gene - - 2.9 ZC4H2 Wieacker-Wolf syndrome Sequencing of all coding exons of the gene - - 0.7 ZEB2 Mowat Wilson Syndrome[] Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles.[] lips, micrognathia), failure to thrive, mental retardation, sparse hair, enamel hypoplasia, loose skin, and skeletal abnormalities.[]

Similar symptoms