Symptoma

Desbuquois Dysplasia

Desbuquois Syndrome

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A submucous cleft palate was present. Early on, he was recognized as having the same syndromic condition as his brother. Delayed development is present and necessitated special education programs. [ncbi.nlm.nih.gov]

Visto que a correlação genótipo-fenótipo dessas OCDs não está bem estabelecida, o objetivo do presente estudo foi investigar os genes FLNB, CANT1, XYLT1, KIF22, B3GALT6, DTDST, IMPAD1 e CHST3 em uma coorte de pacientes com fenótipos sugestivos das OCD [repositorio.unicamp.br]

To the best of our knowledge, ocular presentation of WZS has not been systematically studied. [nature.com]

However, cleft palate is not always present and a few cases none of the features of Pierre-Robin sequence develop. [rarediseases.org]

  • Broad Thumb

    thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Cleft palate Cleft roof of mouth 0000175 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Narrow chest Low chest circumference Narrow shoulders [ more ] 0000774 Pectus carinatum [rarediseases.info.nih.gov]

  • Single Transverse Palmar Crease

    transverse palmar crease 0000954 Toe clinodactyly 0001863 Truncal obesity 0001956 1%-4% of people have these symptoms Bifid uvula 0000193 Cutaneous syndactyly 0012725 Radial head subluxation 0003048 Percent of people who have these symptoms is not available [rarediseases.info.nih.gov]

  • Delayed Speech Development

    speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language [rarediseases.info.nih.gov]

  • Microstomia

    […] palmitoyl transferase 1A deficiency * Carnitine palmitoyl transferase 2 deficiency * Carnitine transporter deficiency * Carnitine-acylcarnitine translocase deficiency * Carnosinase deficiency * Carnosinemia * Caroli disease * Carpal deformity migrognathia microstomia [medicalgeek.com]

  • Low-Set Posteriorly Rotated Ears

    posteriorly rotated ears 0000368 Radioulnar synostosis Fused forearm bones 0002974 Scoliosis 0002650 Small hand Disproportionately small hands 0200055 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629 5%-29% of [rarediseases.info.nih.gov]

  • Advanced Bone Age

    80%-99% of people have these symptoms Abnormality of the metaphysis Abnormality of the wide portion of a long bone 0000944 Accelerated skeletal maturation Advanced bone age Early bone maturation [ more ] 0005616 Anteverted nares Nasal tip, upturned Upturned [rarediseases.info.nih.gov]

  • Coxa Valga

    valga 0002673 Coxa vara 0002812 Elbow dislocation Dislocations of the elbows Elbow dislocations [ more ] 0003042 Genu recurvatum Back knee Knee hyperextension [ more ] 0002816 Hypotrichosis Sparse hair since birth 0001006 Low-set, posteriorly rotated [rarediseases.info.nih.gov]

  • Small Hand

    hand Disproportionately small hands 0200055 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629 5%-29% of people have these symptoms Broad foot Broad feet Wide foot [ more ] 0001769 Broad thumb Broad thumbs Wide/broad [rarediseases.info.nih.gov]

  • Decrease in Height

    […] body height Small stature [ more ] 0004322 Synophrys Monobrow Unibrow [ more ] 0000664 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Variable expressivity 0003828 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 [rarediseases.info.nih.gov]

  • Hyperlaxity

    A variant of Larsen syndrome was reported in patients from Reunion Island in the southern Indian Ocean and characterized by dwarfism, hyperlaxity, multiple dislocations and distinctive facial features. [rarediseases.org]

  • Depressed Nasal Bridge

    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 Developmental glaucoma 0001087 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 [rarediseases.info.nih.gov]

  • Round Face

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 Sandal gap Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space [rarediseases.info.nih.gov]

  • Short Nose

    nose Decreased length of nose Shortened nose [ more ] 0003196 Short phalanx of finger Short finger bones 0009803 Short stature Decreased body height Small stature [ more ] 0004322 Synophrys Monobrow Unibrow [ more ] 0000664 Talipes equinovarus Club feet [rarediseases.info.nih.gov]

  • Low Nasal Root

    nasal root [ more ] 0005280 Developmental glaucoma 0001087 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Epiphyseal dysplasia Abnormal development of the ends of long bones in arms and legs 0002656 Flat acetabular roof 0003180 Flat face Flat [rarediseases.info.nih.gov]

Clinical Testing and Workup In most cases, Catel-Manzke syndrome is diagnosed at birth based upon a thorough clinical evaluation, identification of characteristic physical findings (e.g., micrognathia, cleft palate, abnormalities of the index fingers, [rarediseases.org]

  • Shortened Long Bone

    long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short phalanx of finger Short finger bones 0009803 Short stature [rarediseases.info.nih.gov]

Standard Therapies Treatment The treatment of Catel-Manzke syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Concomitant treatment using a Pavlik harness for associated developmental dysplasia of the hip was initiated at the age of 6 weeks and to be maintained for at least 4 months. [jcnonweb.com]

An accurate and early syndromic diagnosis of congenital malformations is of vital importance, as late diagnosis can result in a delay in intervention and treatment of accompanying anomalies such as congenital heart defects or endocrine disorders. [centogene.com]

Clinical features and treatment of joint dislocations in Larsen's syndrome. Report of three cases in one family. Clin Orthop Relat Res 1976(119)206–210. [ PubMed ] 6. Micheli L J, Hall J E, Watts H G. [ncbi.nlm.nih.gov]

The prognosis of children who have LS is variable and most affected persons have moderate symptoms that can be treated, allowing for a relatively normal life span. In severe forms of LS the prognosis can be poor. [jcnonweb.com]

Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

Prenatal diagnosis by ultrasonic examination in early pregnancy has been reported in DD. 9 Though both types of DD are autosomal recessive but they must be distinguished so that correct prognosis regarding survival can be offered. [jpma.org.pk]

Children with WZS, who survive a neonatal respiratory distress, usually have a good general prognosis due to a catch-up growth and normal, or almost normal, psychomotor development. 2, 8 They suffer, however, from a hearing loss, and any visual impairment [nature.com]

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]

A multidisciplinary approach is essential to develop adequate preventive programmes adapted to the social, cultural, and economic context. 2010 Wiley‐Liss, Inc. [onlinelibrary.wiley.com]

When LS is suspected, cesarean delivery is the preferred mode of delivery to prevent limbs and cervical spine trauma during vaginal delivery. [jcnonweb.com]

Therefore, a complete ophthalmic examination, including cycloplegic refraction and orthoptic assessment, is warranted at an early age, in order to prevent amblyopia. References 1 Weissenbacher G, Zweymuller E. [nature.com]

When a decision is made to continue the pregnancy with suspected Larsen syndrome, Cesarean section is recommended to prevent trauma to the limbs and the cervical spine during vaginal delivery. [rarediseases.org]