Abstract Two sisters and an unrelated girl presented a distinct intrauterine growth retardation-malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, camptodactyly, talipes, [unboundmedicine.com]

}-Pujol and Jos{\'e} S{\'a}nchez-Corona}, journal {Clinical genetics}, year {1985}, volume {28 1}, pages { 54-60 } } José María Cantú, D García-cruz, 4 authors José Sánchez-Corona Published 1985 in Clinical genetics Two sisters and an unrelated girl presented [semanticscholar.org]

PMID: 12401988 Issn Print: 0962-8827 Publication Date: 2002/10/01 Author Information Author Information: División de Genética, CIBO, Instituto Mexicano del Seguro Social Abstract A Mexican family is presented with the main clinical features of camptodactyly [insights.ovid.com]

Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.de]

causing mechanical stretch and deviation of the medial soft tissue. genetics 90% of cases of hallux valgus developing under age 60 years are genetic and presumably relate to production of elastin patients presenting for treatment suggest a 15:1 ratio [ozemedicine.com]

• Short Stature

  Abstract Two sisters and an unrelated girl presented a distinct intrauterine growth retardation-malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, camptodactyly, talipes, [unboundmedicine.com]

  stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, camptodactyly, talipes, shortened 2nd toes, hypoplastic patella and skeletal dysplasia probably due to homozygosity from an autosomal recessive gene. [semanticscholar.org]

  Short stature and microcephaly, known to be common to both the variants, were also noted. Conclusions This child had overlapping features of both types of variants of the Guadalajara Syndrome. [ped-rheum.biomedcentral.com]

  stature, flat facies and digital contractures (Emery 8. [vdocuments.site]

  Authors: J M Cantú; H Rivera; Z Nazará; Q Rojas; A Hernández; D García-Cruz Related Documents : 4064363 - Cortical blindness, growth and psychomotor retardation and postaxial polydactyly: a pro... 1342873 - Disproportionate short stature, type e brachydactyly [biomedsearch.com]

• Weakness

  […] muscle tone 0001252 Nevus Mole 0003764 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Short neck Decreased length of neck 0000470 Small hypothenar eminence 0010487 Small thenar eminence 0001245 Spina bifida occulta [rarediseases.info.nih.gov]

  Top matches: Medium match CENTRAL CORE DISEASE OF MUSCLE; CCD Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle [mendelian.co]

• Multiple Congenital Anomalies

  NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1326Disease definitionCamptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital [malacards.org]

  Orpha Number: 1326 Disease definition Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including [rarediseases.info.nih.gov]

• Developmental Delay

  delay 0001263 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Joint contracture of the [rarediseases.info.nih.gov]

  delay, and associated skeletal abnormalities. [mendelian.co]

• Receding Chin

  chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Short neck Decreased length of neck 0000470 Small hypothenar eminence 0010487 Small thenar eminence 0001245 Spina bifida occulta 0003298 Symblepharon Eyelid stuck to eyeball 0430007 Telecanthus [rarediseases.info.nih.gov]

• Hip Dislocation

  Abstract Two sisters and an unrelated girl presented a distinct intrauterine growth retardation-malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, camptodactyly, talipes, [unboundmedicine.com]

  dislocation, hypoplastic pubic region and genitalia, camptodactyly, talipes, shortened 2nd toes, hypoplastic patella and skeletal dysplasia probably due to homozygosity from an autosomal recessive gene. [semanticscholar.org]

  Showing of 29 80%-99% of people have these symptoms Camptodactyly of finger Permanent flexion of the finger 0100490 Cuboid-shaped vertebral bodies 0004634 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Intrauterine growth retardation [rarediseases.info.nih.gov]

  Diseases related with Intrauterine growth retardation and Hip dislocation In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Hip dislocation that can help you solving undiagnosed cases [mendelian.co]

  dislocation, and hypoplastic pubic region and genitalia. [malacards.org]

• Torticollis

  […] more ] 0000278 Short neck Decreased length of neck 0000470 Small hypothenar eminence 0010487 Small thenar eminence 0001245 Spina bifida occulta 0003298 Symblepharon Eyelid stuck to eyeball 0430007 Telecanthus Corners of eye widely separated 0000506 Torticollis [rarediseases.info.nih.gov]

  SCDHPP ENS GS WFS THS GOSl SPS NPS ODDS COFS KD MPS NCS GOS-ll & Nanosomy at birth Short stature Microcephaly Palpebral ptosis Microphthalmia Ocular hypertelorism Clefl palate Micrognathia or retro- micrognathia Stiffness of temporo- mandibular joint Torticollis [vdocuments.site]

• Muscle Weakness

  weakness Narrow mouth Generalized muscle weakness Oxycephaly Feeding difficulties in infancy Flat face Fatigue Cardiomyopathy Confusion Wide anterior fontanel Fever Infantile onset Prominent supraorbital ridges Severe intrauterine growth retardation [mendelian.co]

• Short Neck

  Malar flattening Zygomatic flattening 0000272 Micropenis Short penis Small penis [ more ] 0000054 Muscular hypotonia Low or weak muscle tone 0001252 Nevus Mole 0003764 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Short [rarediseases.info.nih.gov]

  neck Hypotelorism Pectus excavatum Osteopenia Single transverse palmar crease Intrauterine growth retardation Talipes equinovarus Hallux valgus Short 2nd ... ... [familydiagnosis.com]

  neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. [malacards.org]

  neck, low-set ears, microcephaly, cuboid vertebral bodies, and others. [omim.org]

• Hypertelorism

  /10/01 Author Information Author Information: División de Genética, CIBO, Instituto Mexicano del Seguro Social Abstract A Mexican family is presented with the main clinical features of camptodactyly, a distinctive facial appearance because of ocular hypertelorism [insights.ovid.com]

  0012385 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Flat face Flat facial shape 0012368 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 Hypertelorism [rarediseases.info.nih.gov]

  […] and Tetralogy of Fallot HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing [rgd.mcw.edu]

  Facial dysmorphism (midfacial hypoplasia, hypertelorism, long neck, small, posteriorly rotated ears) and subnormal intelligence were compatible with Type I variant but muscle (gluteal hypoplasia), genital (labial hypoplasia) and skeletal findings (brachydactyly [ped-rheum.biomedcentral.com]

  Friar's syndrome peculiar facies, characterized by downslanting palpebral fissures, epicanthic folds, hypertelorism, and ptosis low IQ ROBINOW-SORAUF SYNDROME a distinct acrocephalosyndactyly syndrome facies like those of the Saethre-Chotzen syndrome [ozemedicine.com]

• Delayed Bone Age

  Radiographic studies revealed spina bifida occulta at cervical and dorso-lumbar levels, increased bone trabeculae, cortical thickening and delayed bone age. [insights.ovid.com]

  Bone Age 548 Asymmetry Hemihypertrophy Hemiatrophy 562 Aarskog Syndrome 576 Achondroplasia 582 Acrofacial DysostosisNager Type 588 Asphyxiating Thoracic Dysplasia 597 BardetBiedl Syndrome 605 Campomelic Dysplasia 611 CHARGE Association 618 Brachytelephalangic [books.google.es]

  bone age minations, X-chromatin and karyotype (high resolution G-bands), yielded normal or negative results. [vdocuments.site]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. [books.google.es]

[…] if hallux valgus is present, causing mechanical stretch and deviation of the medial soft tissue. genetics 90% of cases of hallux valgus developing under age 60 years are genetic and presumably relate to production of elastin patients presenting for treatment [ozemedicine.com]

Inside these pages, you will learn what it is, who is most at risk for developing it, what causes it, and some treatment plans to help those that do have it feel better. [arthritisresearch.us]

The recommended chemotherapy is based on platin and taxanes for 6 cycles, except in Stage IA, IB and grade 1, which have a good prognosis. In advanced stages, primary cytoreduction is recommended as initial treatment. [science.gov]

Epidemiological study of 500 cases. Unfallchirurg 2001; 104: 303-11 Bulutlar G, Yazici H, Ozdogan H, Schreuder I. A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara. [arthritisresearch.us]

PMID:11689700 Epidemiological study of hepatitis B and C in a municipality with rural characteristics: Cássia dos Coqueiros, State of Sà o Paulo, Brazil. [science.gov]

The deployment of more policemen was the strategy most cited and strengthening the family unit was the most commented preventative measure. [science.gov]