AnatomyDiseasesAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesHealth Care
RetrognathiaMicrognathismPierre Robin SyndromeFacial PainMandibleTemporomandibular Joint DisordersCephalometryArthralgiaPhotography
CleftMicrognathiaAnomaliesPalpebral fissuresMandibularCraniosynostosisNoseFaciesDiseasesCongenitalSevereCraniofacialSyndromeAutosomal recessiveNeonatalBrainFeaturesEntityConditionDiagnosisNoteOnsetSizeCasesHigh-arched palateAirway obstructionMicrocephalyGeneticRespiratoryManifestationsFacialDeficiencyVariantDefinitionLeading clinicalBirth
Cleft6
  • Micrognathia and retrognathia, cleft lip/palate, a poorly formed nose, posteriorly rotated ears and deep-set eyes are the main craniofacial dysmorphic features observed in HLS. (orpha.net)
  • This syndrome resembles Pierre Robin sequence where there is a combination of cleft palate, retrognathia and micrognathia and presents with neonatal respiratory problems. (jpgo.org)
  • A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. (beds.ac.uk)
  • A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro/retrognathia, cleft palate, brachydactyly and short stature. (nictiz.nl)
  • This rare syndrome presents the symptoms alliance to classical traid, U or V shaped cleft palate, microganathia/retroganathia, glossoptosis and associated anomalies of syndromes mainly with regard to respiratory and feeding problems .there are various advancement in the area of perinatal diagnosis of PRS, which help us to early identification and effective management .On the other hand physical diagnosis and cephalometric radiographs helps to manage postnatally. (ajner.com)
  • [ 2 ] They surveyed (via questionnaires) numerous aspects, among them, the difference between "retrognathia" and "micrognathia" and whether the cleft type (ie, "U-shaped" versus "V-shaped") had any influence in the decision-making process. (medscape.com)
Micrognathia1
Anomalies3
  • This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia). (nih.gov)
  • A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome) intracerebral calcifications and dysmorphic facial features (including broad forehead downslanted palpebral fissures strabismus protruding and low-set ears and retrognathia). (globalgenes.org)
  • Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly broad palpebral fissures and retrognathia) hypohidrosis hyperkeratosis and cardiac and musculoskeletal anomalies. (globalgenes.org)
Palpebral fissures1
  • In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Downslanted palpebral fissures that can help you solving undiagnosed cases. (mendelian.co)
Mandibular1
  • Craniofacial abnormalities include dolichocephaly (long face), highly arched palate, maxillary and mandibular retrognathia and macrocephaly. (springeropen.com)
Craniosynostosis1
  • Other applications include corrections to birth defects (such as hypertelorism), maxillofacial surgery, craniosynostosis, rare craniofacial clefts, or removal of tumors. (wikipedia.org)
Nose1
  • Nablus mask-like facial syndrome (NMLFS) is a rare entity defined by distinctive facial features, including blepharophimosis, tight-appearing glistening facial skin, an abnormal hair pattern with an upswept frontal hairline, sparse arched eyebrows, flat and broad nose, long philtrum, distinctive ears, and a happy demeanor (summary by Jain et al. (nih.gov)
Facies1
  • Cranial abnormalities, such as macrocephaly , and several characteristic features of the face ( retrognathia , a broad forehead , round facies , large ears , and very wide eyes) are commonly present [1] [4]. (symptoma.mt)
Diseases2
  • Questions about rare diseases? (nih.gov)
  • Many rare diseases have limited information. (nih.gov)
Congenital2
  • 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. (nih.gov)
  • A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay hypotonia failure to thrive hematological/immunological abnormalities recurrent infections liver involvement (with hepatosplenomegaly cholestasis fibrosis or cirrhosis) and enteropathy. (globalgenes.org)
Severe1
Craniofacial1
  • Marfan syndrome is a rare autosomal dominant inherited disease of the connective tissue associated with various craniofacial abnormalities. (springeropen.com)
Syndrome9
  • Stickler syndrome is a very rare connective tissue disorder. (koreamed.org)
  • We present a rare case of Stickler's Syndrome (hereditary progressive arthro-ophthalmopathy) which is a genetic disorder affecting collagen, comprising of ocular pathologies, hearing disabilities, facial deformity and skeletal dysplasias. (jpgo.org)
  • Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome. (fdna.health)
  • In some instances, a gait disturbance may be one of the features of a rare disease or genetic syndrome. (fdna.health)
  • Proteus syndrome is a rare condition that can be loosely categorized as a hamartomatous disorder. (medscape.com)
  • Proteus syndrome is believed to be exceedingly rare, with less than 100 confirmed affected individuals reported worldwide. (medscape.com)
  • Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. (nipt-geneplanet.com)
  • The same group includes a rare syndrome of primary alveolar hypoventilation ("Undine's Curse Syndrome") due to the primary insufficiency of the respiratory center. (iliveok.com)
  • Weaver syndrome is a very rare genetic disorder that presents with a range of musculoskeletal, cutaneous, cognitive, and facial symptoms. (symptoma.mt)
Autosomal recessive1
  • D-glyceric aciduria is a rare autosomal recessive metabolic disorder with a highly variable phenotype. (nih.gov)
Neonatal1
  • Stillbirth or neonatal death is the rule, although rare cases with several months survival have been reported. (orpha.net)
Brain1
  • We are collaborating to cure rare, non-verbal brain disorders. (globalgenes.org)
Features1
  • Malaise , fever and/or cervical lymph node enlargement are rare (unlike the typical features of herpetic stomatitis ). (mdwiki.org)
Entity1
  • Interstitial deletions of the distal 7q region are considered a rare entity. (hindawi.com)
Condition2
  • Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition. (globalgenes.org)
  • EDEM3-CDG is a rare inherited condition that affects many parts of the body. (cdghub.com)
Diagnosis1
  • We can help you with your rare disease diagnosis. (mendelian.co)
Note1
  • Enlarged tonsils and adenoids are the most common cause of OSA in children but note that in adults, it is very rare for to be a cause of OSA. (ayurvedapc.blog)
Onset1
Size1
Cases1
  • In some rare cases it may be present as a bifid structure. (symptoma.com)
High-arched palate1
  • A rare disorder of ornithine metabolism with characteristics of global developmental delay, alopecia, macrocephaly and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears and retrognathia or high arched palate). (nictiz.nl)
Airway obstruction1
  • as malocclusion, periodontal diseases, airway obstruction, Microcephaly is a rare condition, which consists of a clinical speech problems and recurrent infections2. (bvsalud.org)
Microcephaly2
  • A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies. (nih.gov)
  • Introduction: Patients carrying homozygous IGF1 loss-of-function mutations are extremely rare and show severe pre- and postnatal growth failure, microcephaly, developmental delay, retrognathia and sensorineural deafness. (eurospe.org)
Genetic3
  • The RareGuru disease database is regularly updated using data generously provided by GARD , the United States Genetic and Rare Disease Information Center. (rareguru.com)
  • Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome. (fdna.health)
  • In some instances, incoordination may be one of the features of a rare disease or genetic syndrome. (fdna.health)
Respiratory1
  • Robin linked the respiratory problems in these children to their physical and psychological development, and indicated that infants with severe retrognathia rarely survive beyond 18 months of age [ 2 ] . (encyclopedia.pub)
Manifestations1
  • A rare subtype of distal arthrogryposis syndrome with characteristics of arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (for example ophthalmoplegia, strabismus). (cdc.gov)
Facial1
  • [ 18 ] Development of malocclusion and facial deformities such as micro- or retrognathia, are later scenarios associated with established permanent sequelae in the TMJ. (medscape.com)
Deficiency1
  • Background: Central hypothyroidism (CeH) is a rare thyroid hormone deficiency due to an insufficient stimulation of a normal thyroid gland. (eurospe.org)
Variant1
  • RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature. (nih.gov)
Definition1
  • Definition: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. (doctorinternet.com)
Leading clinical1
  • Various treatment approaches exist, and although controlled studies are rare, objective assessment of treatment outcomes that address the leading clinical issues, namely obstructive sleep apnea and failure to thrive, are essential. (nih.gov)
Birth1
  • Other applications include corrections to birth defects (such as hypertelorism), maxillofacial surgery, craniosynostosis, rare craniofacial clefts, or removal of tumors. (wikipedia.org)