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]

Small kneecap Underdeveloped kneecap [ more ] 0003065 Pectus excavatum Funnel chest 0000767 Short 2nd toe Short second toe 0001885 Short 3rd toe Short third toe 0005643 Short 5th toe Short little toe Short pinkie toe Short pinky toe [ more ] 0011917 Short [rarediseases.info.nih.gov]

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]

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, [mendelian.co]

A new camptodactyly syndrome is described in a 16-year-old Sephardic Jewish girl consisting of unusual facies with multiple eye anomalies, short stature, scoliosis, and joint contractures. [scinapse.io]

" (Technology Related Assistance for Individuals with Disabilities Act, 1988, Sta. ‏ [books.google.com]

Schinzel- Giedion syndrome 0 *Abnormalities, Multiple *Hand Deformities, Congenital *Intellectual Disability *Nails, Malformed *Craniofacial Abnormalities. [reference.md]

" (Technology Related Assistance for Individuals with Disabilities Act, 1988, Sta. ‎ [books.google.es]

[…] syndrome Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Hearing impairment Scoliosis SOURCES: GARD SCTID ORPHANET OMIM MONDO UMLS MESH More info about WOODHOUSE-SAKATI SYNDROME Top 5 symptoms//phenotypes associated [mendelian.co]

Please be aware that disabling cookies may result in also disabling certain functionality and features of this site, as well as other websites you visit. [varsome.com]

Homepage Rare diseases Search Search for a rare disease Camptodactyly syndrome, Guadalajara type 2 Disease definition Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine [orpha.net]

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]

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]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition. [varsome.com]

Official College of Physicians of Barcelona, Sabadell, Barcelona, Spain. 19-29 May 2003. Fifth World Congres in Fetal Medicine, Barcelona, España. 25-29 Junio 2006. SOLÉ MT, “. Hot topics in genetics: Genetics made easy. [lagenetica.info]

fingers or toes 0001156 Hallux valgus Bunion 0001822 Hypotelorism Abnormally close eyes Closely spaced eyes [ more ] 0000601 Long philtrum 0000343 Low-set ears Low set ears Lowset ears [ more ] 0000369 Macrotia Large ears 0000400 Micrognathia Little [rarediseases.info.nih.gov]

finger-flexor tendons • Multiple pterygium syndrome (Escobar syndrome) • Multiple pterygium syndrome, lethal type • Nail-patella syndrome • Neu-Laxova syndrome • Oculo-dento-osseous dysplasia • Ophthalmomandibulomelic dysplasia • Oro-facio-digital syndrome [rrnursingschool.biz]

finger Oligodontia Increased bone mineral density Overgrowth Gingival overgrowth Dental crowding Broad thumb Failure to thrive Postnatal growth retardation Absent palmar crease Short femoral neck Moderately short stature Cigarette-paper scars Thenar [mendelian.co]

ears Low set ears Lowset ears [ more ] 0000369 Macrotia Large ears 0000400 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Osteopenia 0000938 Short 4th toe Short fourth toe 0008093 Short middle phalanx of finger Short middle [rarediseases.info.nih.gov]

[…] syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set [orpha.net]

ears, microcephaly, cuboid vertebral bodies, and others. [omim.org]

Camptodactyly Syndrome, Guadalajara, Type II Symptoms and clinical features may include: 1 Clinical Features of Camptodactyly Syndrome, Guadalajara, Type II : Autosomal recessive inheritance Labial hypoplasia Microcephaly Long philtrum Micrognathia Low-set [familydiagnosis.com]

[…] recessive inheritance 0000007 Brachydactyly Short fingers or toes 0001156 Hallux valgus Bunion 0001822 Hypotelorism Abnormally close eyes Closely spaced eyes [ more ] 0000601 Long philtrum 0000343 Low-set ears Low set ears Lowset ears [ more ] 0000369 Macrotia [rarediseases.info.nih.gov]

Camptodactyly Syndrome, Guadalajara, Type II Symptoms and clinical features may include: 1 Clinical Features of Camptodactyly Syndrome, Guadalajara, Type II : Autosomal recessive inheritance Labial hypoplasia Microcephaly Long philtrum Micrognathia Low-set ears Macrotia [familydiagnosis.com]

ears 0000400 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Osteopenia 0000938 Short 4th toe Short fourth toe 0008093 Short middle phalanx of finger Short middle bone of finger 0005819 Short neck Decreased length of neck 0000470 [rarediseases.info.nih.gov]

dysplasia probably due to homozygosity from an autosomal recessive gene. [semanticscholar.org]

Search for a rare disease Camptodactyly syndrome, Guadalajara type 2 Disease definition Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal [orpha.net]

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]

TY - JOUR T1 - Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome. [wwww.unboundmedicine.com]

Dysplasia Camptodactyly Syndrome Guadalajara Type 1 Camptodactyly Syndrome Guadalajara Type 2 Camptodactyly Taurinuria Camptodactyly Vertebral Fusion Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia camptodactyly-arthropathy-coxa vara-pericarditis [rgd.mcw.edu]

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]

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]

dislocation, and hypoplastic pubic region and genitalia. [orpha.net]

Some ways that our children are affected by Escobar is vertical talus, scoliosis, camptodactyly (clenched fists), knee flexion contractures, eventration of the diaphragm, tethered spinal cords, submoucal cleft palate, and hip dislocations. [escobarsyndrome.blogspot.com]

Hypotelorism Abnormally close eyes Closely spaced eyes [ more ] 0000601 Long philtrum 0000343 Low-set ears Low set ears Lowset ears [ more ] 0000369 Macrotia Large ears 0000400 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Osteopenia [rarediseases.info.nih.gov]

[…] clinical features may include: 1 Clinical Features of Camptodactyly Syndrome, Guadalajara, Type II : Autosomal recessive inheritance Labial hypoplasia Microcephaly Long philtrum Micrognathia Low-set ears Macrotia Short neck Hypotelorism Pectus excavatum Osteopenia [familydiagnosis.com]

[…] 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, simian creases, osteopenia [ped-rheum.biomedcentral.com]

[…] pterygium syndrome, lethal type • Nail-patella syndrome • Neu-Laxova syndrome • Oculo-dento-osseous dysplasia • Ophthalmomandibulomelic dysplasia • Oro-facio-digital syndrome I • Pena-Shokeir syndrome types I and II • Poland syndrome • Prader-Willi habitus/osteopenia [rrnursingschool.biz]

DRS2 Low match SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia [mendelian.co]

Small stature [ more ] 0004322 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Percent of people who have these symptoms is not available through HPO Abnormality of the neck 0000464 Autosomal recessive inheritance 0000007 Brachydactyly [rarediseases.info.nih.gov]

[…] syndrome acheiropody acrofacial dysostosis Rodriguez type acrofacial dysostosis, Patagonia type Acrootoocular Syndrome acrorenal syndrome Anonychia-Ectrodactyly Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges Banki Syndrome brachydactyly [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]

Associations • Aarskog syndrome • Acro-fronto-facio-nasal dysostosis syndrome • Adducted thumbs syndrome (Christian syndrome) • Antley-Bixler syndrome • Arthrogryposis, distal types I and II • Arthropathy-camptodactyly syndrome • Brachydactyly type A3 [rrnursingschool.biz]

Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015 ). [mendelian.co]

[…] body height Small stature [ more ] 0004322 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Percent of people who have these symptoms is not available through HPO Abnormality of the neck 0000464 Autosomal recessive inheritance [rarediseases.info.nih.gov]

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

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

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

nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Showing of 29 Last updated: 4/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

Yet, the existing medical literature on arthrogryposis is sparse and often confusing. [books.google.com]

It should not be confused with the median lumbosacral blue spots being present in many neonates of indigenous populations of many parts of the world. [plasticsurgerykey.com]