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223 Possible Causes for Desbuquois Dysplasia, Hirsutism, 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[se-atlas.de] Hirsutism of the lower back (B) and forearms(C) Figure 3 All images are from a woman age 40 years.[ncbi.nlm.nih.gov] […] eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick vermilion border Full lips Increased volume of lip Plump lips[rarediseases.info.nih.gov]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Dysplasia 2 1 Desbuquois Syndrome 1 Desmosterolosis 1 Diabetes Insipidus, Nephrogenic, Autosomal 2 Diabetes Insipidus, Nephrogenic, X-Linked 2 Diabetes Insipidus, Neurohypophyseal[preventiongenetics.com] Syndrome of gingival hyperplasia, hirsutism and convulsions. J Pediatr 1965: 67: 499-502. Winstock D. Hereditary gingivofibromatosis. Br J Oral Surg 1964: 2: 59-64.[documentslide.com] Extraoral examination of the father and son showed the presence of thick eyebrows, eyelashes, bulbous nose, floppy ears, and thick lips with prominent maxilla and mandible[jdrntruhs.org]

  • Winchester Syndrome

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] hypertrichosis / Increased body hair - Irregular / in bands / reticular skin hyperpigmentation - Long / large / bulbous nose - Thick lips - Thick skin / pachydermia / orange[csbg.cnb.csic.es] The cutaneous manifestations of this syndrome include leathery thickening of the skin, hyperpigmentation and hypertrichosis. The lips and gingiva are hypertrophic.[ncbi.nlm.nih.gov]

  • Amaurosis-Hypertrichosis Syndrome

    dysplasia) CAPN3 (Muscular dystrophy, limb-girdle, type 2A) CARD9 (Candidiasis, familial chronic mucocutaneous, autosomal recessive) CASK (FG syndrome 4) CASP10 (Autoimmune[en.praenatal-medizin.de] MalaCards based summary : Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis, is also known as amaurosis congenita cone-rod type with congenital hypertrichosis[malacards.org] 21 102100 Acromegaloid changes, cutis vertcis gyrata, and corneal leukoma (Rosenthal-Kloepfer syndrome) 22 102150 Acromegaloid facial appearance syndrome (AFA syndrome) (Thick[becomerich.lab.u-ryukyu.ac.jp]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    (Spondyloepiphyseal dysplasia, Rolland - Desbuquois dysplasia, Wolcott-Rallisson syndrome, Dyggve-Melchior-Clausen syndrome) Heterogeneous group of rare disorders, characterized[sites.uclouvain.be] H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about[mendelian.co] […] 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[rarediseases.info.nih.gov]

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[ncbi.nlm.nih.gov] The phenotype is characterized by brachycephaly, flat face, hypertelorism, low-set ears, hypertrichosis, hypoplastic thorax, as well as short extremities with brachydactyly[ncbi.nlm.nih.gov] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com]

  • Wiedemann-Steiner Syndrome

    Dandy-Walker malformation and occipital cephaloceles, LAMC1 related De Sanctis-Cacchione syndrome Desbuquois dysplasia Desmosterolosis Diamond Blackfan anemia with mandibulofacial[qlinics.com] Hum Genet 1982 Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?[pubfacts.com] lip, stubby hands and feet, hirsutism, and severe psychomotor retardation.[ncbi.nlm.nih.gov]

  • Craniorhiny

    Craniomicromelic Syndrome Craniorhiny craniosynostosis Crouzon syndrome Curly Hair-Acral Keratoderma-Caries Syndrome Desanto-Shinawi Syndrome Desbuquois dysplasia Diaphanospondylodysostosis[rgd.mcw.edu] […] sharing: Symptoms via clinical synopsis from OMIM: 57 Skull: craniosynostosis oxycephaly recessed forehead lack of nasofrontal angle Nose: wide nose anteverted nostrils nasal hirsutism[malacards.org] […] lower lip vermilion Sloping forehead Osteoporosis Verrucae Asthma Short thumb Cutis laxa Joint hyperflexibility Growth abnormality Aortic aneurysm Motor delay Pulmonic stenosis[mendelian.co]

  • Harlequin Type Ichthyosis

    Rolland-Desbuquois type Isolated growth hormone deficiency type 3 Occipital horn syndrome Chromosome 10p deletion Osteogenesis imperfecta type VI Brachydactyly preaxial with[checkrare.com] Skin around mouth gets so thick that pulls the lips all the way up and down, forming a “clown smile”.[aclsstlouis.com] The 28-year-old woman has been left “traumatised” by the birth of the little girl who emerged with thick white skin, red eyes and inverted lips.[dailystar.co.uk]

  • Stiff Skin Syndrome

    dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[centogene.com] […] skin syndrome (SSS), this is a rare genetic alteration characterized by hardening of the skin and subcutaneous tissue associated with gradual joint stiffness and, at times, hirsutism[ncbi.nlm.nih.gov] Signs of dryness include a dry, sticky mouth; cavities; thick saliva, or none at all; a smooth look to the tongue; redness in the mouth; dry, cracked lips; and sores at the[diagnose-me.com]

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