congenital anomalies-hypotonia-seizures syndrome type 1 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Myhre syndrome Native American myopathy Neuroaxonal neurodegeneration, infantile, with facial dysmophism [qlinics.com]

Cristina Skrypnyk UMF Oradea; Diagnosis and management of patients with mental retardation and multiple congenital anomalies – Iaşi Medical Genetics Center’s experience; Cristina Rusu (1), M. Voloşciuc (1), E. Braha (1), L. Butnariu (1), M. [anbraro.wordpress.com]

congenital anomalies-hypotonia-seizures syndrome type 1 (PIGN) Cost: 30000.00 Test Offer Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (B3GAT3) Cost: 30000.00 Test Offer Myhre syndrome (SMAD4) Cost: 30000.00 [dnalabsindia.com]

General manifestations Along with congenital sensorineural deafness, multiple congenital anomalies are associated with this syndrome. The widely spaced medial canthi (dystopia canthorum) are characteristic of WS1. [emedicine.medscape.com]

Congenital Anomalies-Hypotonia-Seizures Syndrome 2 1 Multiple Endocrine Neoplasia, Type 1 2 Multiple Endocrine Neoplasia, Type 2A 3 Multiple Endocrine Neoplasia, Type 2B 2 Multiple Endocrine Neoplasia, Type IV 1 Multiple Epiphyseal Dysplasia 1 3 Multiple [preventiongenetics.com]

Hart, Do X‐linked diseases affect periodontal health?, Periodontology 2000, 61, 1, (266-278), (2012). [doi.org]

SNAP29 synaptosomal-associated protein, 29kDa Cerebral dysgenesis, neuropathy, ichthyosis, [MIM 609528] SPG20 spastic paraplegia 20 (Troyer syndrome) Troyer syndrome [MIM 275900] TPP1 Palmitoyl-protein thioesterase Ceorid lipofuscinosis 1 [MIM 607998], Periodontitis [tigem.it]

2 Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 4 Ehlers-Danlos Syndrome, Hydroxylysine-Deficient 4 Ehlers-Danlos Syndrome, Musculocontractural Type 3 Ehlers-Danlos Syndrome, Musculocontractural Type 2 1 Ehlers-Danlos Syndrome, Periodontal [preventiongenetics.com]

fibrosis resulting from ductal plate malformation). [link.springer.com]

Ramanathan, Anesthetic considerations in a parturient with Oral-Facial-Digital syndrome and repaired tetralogy of Fallot with left ventricular dysfunction, International Journal of Obstetric Anesthesia, 23, 2, (182), (2014). John E. [doi.org]

This gene is located on the short arm of the X chromosome (Xp22.3-22.2) and governs the production of (codes for) the protein OFD I [7, 8, 9]. [medresearch.in]

arm of X-chromosome (Xp22.2-Xp22.3). [7] The mutation analysis has identified the gene as CXORF5, which was later named as OFD1 gene. [jisppd.com]

This gene is located on the short arm of the X chromosome (Xp22.3-22.2) and governs the production of (codes for) the protein OFD I. [socialstyrelsen.se]

The gene responsible for OFD type I syndrome was identified on the short arm of the X chromosome [ 13 ]. [doi.org]

All affected cases presented with skeletal dysplasia with long bone bowing and tibia hypoplasia and only two cases displayed associated orofaciodigital findings. [doi.org]

The facial abnormalities most commonly include aplasia of the alar cartilage, ocular hypertelorism, strabismus and alopecia ( King and Sanares, 2002 ; Mihci et al ., 2007 ). [scialert.net]

The facial abnormalities includes ocular hypertelorism, aplasia of the alar cartilage, alopecia and strabismus. [1],[3] Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to 250,000 newborns. [jisppd.com]

[…] progeria Hydranencephaly, Fowler type Hydrolethalus syndrome Hypermethioninemia due to adenosine kinase deficiency Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Hyperphosphatasia with mental retardation syndrome Hypogonadism, alopecia [qlinics.com]

Alopecia, usually partial, is an occasional finding. Alopecia following the lines of Blaschko has been described [ Boente et al 1999 ]. Liver, pancreatic, and ovarian cysts may be observed, but only in those who have renal cysts as well. [ncbi.nlm.nih.gov]

Hypodontia Finger syndactyly Elevated hepatic transaminase Facial asymmetry Hamartoma Dystonia Multicystic kidney dysplasia Coarse hair Meningocele Median cleft lip Cone-shaped epiphysis Stage 5 chronic kidney disease Abnormality of the pancreas Ranula Alopecia [mendelian.co]

Disorders 3 Epileptic encephalopathy, childhood-onset 6 Epileptic encephalopathy, early infantile, 1 6 Epileptic Encephalopathy, Early Infantile, 10 5 Epileptic Encephalopathy, Early Infantile, 11 7 Epileptic Encephalopathy, Early Infantile, 12 4 Epileptic [preventiongenetics.com]

II, Mohr syndrome [3] Type III, Sugarman syndrome Type IV, Baraitser-Burn syndrome [4] Type V, Thurston syndrome [5] Type VI, Varadi-Papp syndrome [6] Type VII, Whelan syndrome [7] Type VIII, Oral-facial-digital syndrome, Edwards type [8] (not to be confused [en.wikipedia.org]

Oxycephaly Joint contracture of the hand Left ventricular hypertrophy Cutaneous finger syndactyly Delayed cranial suture closure Hyperglycemia Broad hallux Bicuspid aortic valve Accelerated skeletal maturation Broad thumb Postaxial foot polydactyly Confusion [mendelian.co]

But the condition can quickly progress to shock, which is marked by falling blood pressure and body temperature, confusion, clotting abnormalities and bleeding into the skin. Blood poisoning is a medical emergency and can be fatal if left untreated. [mynutritionhouserewards.com]