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]

[…] 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]

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]

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]

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]

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]

[…] 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]

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]

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]

/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]

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]