Presentation
To the best of our knowledge, no other similarly affected family has been presented in the literature. [ncbi.nlm.nih.gov]
An Indian neonate presented on day 1 of life (youngest in the literature to be reported) with combination of abnormalities consistent with the acrocallosal syndrome and some additional findings. [journals.sbmu.ac.ir]
Its definition 2010 This paper presents a definition of the medical field of community genetics. [paperity.org]
Neonatal diabetes mellitus (NDM)was first described by doctor Kitselle in1852, when his child presented with severe hyperglycemia at birth. [pediatricendocrinology.pl]
A review of the epidemiology and classification of lymphedema on the backdrop of its clinical presentation reveals weaknesses of the present classification system, which, however, is the basis for the choice of optimal patient care. [doi.org]
Entire Body System
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Spindle-shaped Fingers
shaped fingers - Syndactyly of fingers / interdigital palm Frequent - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Generalized obesity [csbg.cnb.csic.es]
All the children, however, had spindle shaped fingers which has been reported in some patients with ACLS. [ojrd.biomedcentral.com]
Physical examination revealed facial dysmorphism and spindle shaped fingers, while ophthalmic examination revealed retinal dystrophy. Furthermore, his height (99 cm) and weight (13 kg) were below the third percentile. [synapse.koreamed.org]
Additional features include epiphyseal dysplasia of the long bones, short neck, pectus excavatum, spindle-shaped fingers with soft-tissue syndactyly, clinodactyly, agenesis of the corpus callosum, and frontotemporal brain atrophy (Al-Gazali and Bakalinova [rrnursingschool.biz]
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Physician
Thus the book is designed for obstetricians, pediatricians, physicians and surgical specialists alike. [books.google.com]
Physicians, Nurse Practitioners and PAs, already on Doximity. Connect with colleagues in the same hospital or clinic You already have 25 invites waiting! [doximity.com]
The physician should maintain a high degree of suspicion and if any signs or symptoms develop, further testing is indicated. If changes are present, appropriate follow-up and management plans can be implemented. [nemours.org]
Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition. [varsome.com]
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Surgical Procedure
The wide variety of diagnoses and recommended therapies, mostly surgical procedures, can be very confusing for patients, their parents, physicians and surgeons. [books.google.com]
Ears
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Low Set Ears
set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Osteoarthritis - Pectus excavatum - Short neck - Spindle shaped fingers - Syndactyly of fingers / interdigital palm Frequent - Corpus callosum / septum pellucidum [csbg.cnb.csic.es]
[HPO:probinson] Show HP:0000365 Hearing loss Show HP:0000368 Low-set, posteriorly rotated ears Show HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance [manteia.igbmc.fr]
All children presented with macrocephaly with frontal bossing, hypertelorism, flat malar regions, low set ears, and short neck (see Figure 1 B, C, D and E for examples). [ojrd.biomedcentral.com]
Macrocephaly with multiple epiphyseal dysplasia and distinctive facies (OMIM 607131) is an association of macrocrania, dysmorphic facies (frontal bossing, hypertelorism, maxillary hypopla-sia, low-set ears), genu valgum, and prominent joints, particularly [rrnursingschool.biz]
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Low-Set Posteriorly Rotated Ears
[HPO:probinson] Show HP:0000365 Hearing loss Show HP:0000368 Low-set, posteriorly rotated ears Show HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance [manteia.igbmc.fr]
Musculoskeletal
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Macrocephaly
Disease Type of connection Acrocallosal syndrome Hydrolethalus Joubert syndrome Joubert syndrome with ocular defect Joubert syndrome with orofaciodigital defect Synonym(s): - Multiple epiphyseal dysplasia - macrocephaly - distinctive facies Classification [csbg.cnb.csic.es]
Macrocephaly Macrocephaly is confirmed when the head circumference is more than 2 standard deviations above the mean for age and sex. [rrnursingschool.biz]
Information for Authors Language Editing Services Journal Info About the Journal Editorial Board Advertising Open Access Subscription Services Reprints Rights and Permissions Advanced Search Home July 1998 - Volume 7 - Issue 3 Autosomal recessive syndrome of macrocephaly [journals.lww.com]
A mutation in KIF7 is responsible for te autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Orphanet J Rare Dis 2012 May 15;7:27. [journals.sbmu.ac.ir]
Abstract Four individuals from one consanguineous family affected with macrocephaly, multiple epiphyseal dysplasia and distinctive facies were presented by Al Gazali and Bakalinova in 1998 (1) as a distinct clinical entity. [ncbi.nlm.nih.gov]
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Skeletal Dysplasia
Сlinical manifestations develop in early infancy with symptoms of permanent neonatal diabetes mellitus (PNDM), skeletal dysplasia, short stature and hepatic dysfunction. [endojournals.ru]
He presented with acute liver and renal insufficiency in addition to skeletal dysplasia and neurodevelopmental retardation. The clinical suspicion of WRS was confirmed by molecular analysis of the EIF2AK3 gene. [degruyter.com]
This project wasalso supported by the European Skeletal Dysplasia Network (ESDN;www.esdn.org), through which patient 5 was co-ascertained, as wellas the Japanese Skeletal Dysplasia Consortium (JSDC; ), and by the Universityof Freiburg. [docslide.com.br]
The patient was screened for other features of Wolcott-Rallison Syndrome, including skeletal survey for skeletal dysplasia which was not present in early life and recognized later. [rmsjournal.org]
dysplasia-epilepsy-short stature syndrome Slender bone dysplasia Smith-Fineman-Myers syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia Solitary median maxillary central incisor syndrome Spastic ataxia-corneal dystrophy [se-atlas.de]
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Genu Valgum
valgum - Hypertelorism - Joint / articular deformation - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Osteoarthritis - Pectus excavatum - Short neck - Spindle shaped fingers - Syndactyly of fingers [csbg.cnb.csic.es]
Macrocephaly, dysmorphic facies, clinodactyly, genu valgum, multiple epiphyseal dysplasia. ACC and frontotemporal atrophy. Aka EIEE6, due to AD mutations in SCN1A. Febrile seizures and later other seizure types, often refractory. [quizlet.com]
These included genu valgum, pectus excavatum and prominent joints[ 10 ]. Radiological examination revealed generalized epiphyseal dysplasia in all affected children. [ojrd.biomedcentral.com]
Macrocephaly with multiple epiphyseal dysplasia and distinctive facies (OMIM 607131) is an association of macrocrania, dysmorphic facies (frontal bossing, hypertelorism, maxillary hypopla-sia, low-set ears), genu valgum, and prominent joints, particularly [rrnursingschool.biz]
[HPO:curators] Show HP:0002553 Arched eyebrows Show HP:0002654 Multiple epiphyseal dysplasia Show HP:0002758 Osteoarthritis Show HP:0002857 Genu valgum Show HP:0002876 Tachypnea, episodic Show HP:0002983 Micromelia Show HP:0003196 Nasal hypoplasia "Underdevelopment [manteia.igbmc.fr]
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Long Arm
Here we report the identification of linkage between this disorder and a locus on the long arm of chromosome 15 between markers D15S979 and D15S1004. [wwww.unboundmedicine.com]
Pivnik EK, Qumsieyeh MB, Tharapel AT, Summitt JB, Wilroy RS: Partial duplication of the long arm of chromosome 6: A clinically recognisable syndrome. J Med Genet 1990;27:523–526. [karger.com]
Homzygosity mapping and DNA sequence analysis in this family localized the defective gene close to the telomeric side of the long arm of chromosome 15 (15q26) and resulted in the exclusion of the chondroitin sulphate proteoglycan ( AGC1 ) gene[ 11 ]. [ojrd.biomedcentral.com]
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Chest Deformity
These congenital deformities, funnel or keel chest deformities, as well as Poland syndromes, affect a small group of patients who suffer from aesthetic rather than functional impairment. [books.google.com]
Face, Head & Neck
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Hypertelorism
[…] reference - No MeSH references Very frequent - Autosomal recessive inheritance - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Epiphyseal anomaly - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - Genu valgum - Hypertelorism [csbg.cnb.csic.es]
Additional manifestations include short stature, joint hyperlaxi-ty progressing to contractures with spasticity and unsteady gait in later life, peculiar facies (prominent forehead with frontal hair upsweep, hypertelorism, epicanthal folds, prominent [rrnursingschool.biz]
The baby, born to non-consanguineous, healthy parents, presented with macrocephaly, prominent forehead, hypertelorism, polydactyly of the hands and feet, duplication of hallux, hypotonia, recurrent cyanotic episodes, rib anomalies, dextro-positioning [journals.sbmu.ac.ir]
All children presented with macrocephaly with frontal bossing, hypertelorism, flat malar regions, low set ears, and short neck (see Figure 1 B, C, D and E for examples). [ojrd.biomedcentral.com]
[…] the aqueduct of Sylvius Hydrocephaly-cerebellar agenesis syndrome Hyperekplexia-epilepsy syndrome Hyperostosis corticalis generalisata Hyperphalangy Hyperphalangy, bilateral Hyperphalangy, unilateral Hyperphosphatasia-intellectual disability syndrome Hypertelorism [se-atlas.de]
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Short Neck
neck - Spindle shaped fingers - Syndactyly of fingers / interdigital palm Frequent - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Generalized obesity [csbg.cnb.csic.es]
Additional features include epiphyseal dysplasia of the long bones, short neck, pectus excavatum, spindle-shaped fingers with soft-tissue syndactyly, clinodactyly, agenesis of the corpus callosum, and frontotemporal brain atrophy (Al-Gazali and Bakalinova [rrnursingschool.biz]
[HPO:curators] Show HP:0000455 Broad nasal tip Show HP:0000470 Short neck Show HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [manteia.igbmc.fr]
All children presented with macrocephaly with frontal bossing, hypertelorism, flat malar regions, low set ears, and short neck (see Figure 1 B, C, D and E for examples). [ojrd.biomedcentral.com]
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Frontal Bossing
bossing / prominent forehead - Genu valgum - Hypertelorism - Joint / articular deformation - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Osteoarthritis - Pectus excavatum - Short neck - Spindle [csbg.cnb.csic.es]
Greig cephalopolysyndactyly syndrome (OMIM 175700) is characterized by craniofacial dys-morphism (macrocephaly with high forehead and bregma, frontal bossing, mild hypertelorism, and broad nasal root) and digital malformations, with postaxial polydactyly [rrnursingschool.biz]
Note macrocephaly, frontal bossing with depressed nasal bridge. ( C ) Facial appearance of IV-4. Note macrocephaly, frontal bossing, depressed nasal bridge and low set ears. ( D ) and ( E ) Elbow joint and hands of IV-2. [ojrd.biomedcentral.com]
[HPO:curators] Show HP:0001999 Facial dysmorphism Show HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [manteia.igbmc.fr]
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Broad Nasal Bridge
[HPO:curators] Show HP:0000426 Prominent nasal bridge Show HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [manteia.igbmc.fr]
Neurologic
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Confusion
The wide variety of diagnoses and recommended therapies, mostly surgical procedures, can be very confusing for patients, their parents, physicians and surgeons. [books.google.com]
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Tremor
[HPO:curators] Show HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] Show HP:0001373 Joint dislocation "Displacement or malalignment of joints." [manteia.igbmc.fr]
Workup
Because no molecular confirmation waspossible at that time, she sought a new diagnostic workup 2 yearslater and was evaluated by two of us (F. Bedeschi and F. [docslide.com.br]
Treatment
Clinical Obstetrics - The Fetus and Mother covers the biology, pathology, and clinical management of disorders affecting the fetus and the mother with illustrations highlighting essential diagnostic features and treatment procedures. [books.google.com]
The majority ofpatients with transient NDM have an abnormality of imprintingof the ZAC and HYMAI genes on chromosome 6q.Permanent NDM requiresan ongoing insulin treatment when diagnosed. [pediatricendocrinology.pl]
The genetic testing for patients with neonatal diabetes is of great importance for definite diagnosis, detecting associated findings, complications and even treatment. It is mandatory for family planning. [rmsjournal.org]
Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition. [varsome.com]
If diagnosed in the early stages, revascularization and aneurysm treatment can be performed safely and effectively. (3) Insulin resistance is associated with MOPDII and can often progress to frank diabetes. [nemours.org]
Prognosis
The condition has poor prognosis and most patients die at a young age due to episodes of acute liver or renal failure. To date about 60 genetically proved cases of WRS have been reported worldwide. [endojournals.ru]
Etiology
雑誌 Pediatr Pathol Mol Med 22:53-75 (2003) 文献 PMID: 11891674 著者 Unger S, Hecht JT タイトル Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. [genome.jp]
Joubert syndrome presenting with young-age onset ischemic stroke: a possible etiologic association. J Child Neurol 2011;26:381–384. 8. Kim JT, Kim SJ, Joo CU, Cho SC, Lee DY. [synapse.koreamed.org]
Epidemiology
[…] macrocephaly - distinctive facies Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]
Fibrochondrogenesis is believed to be related to omphalocele type III, suggesting a possible genetic association between the two disorders. [10] Epidemiology Fibrochondrogenesis is quite rare. [1] A 1996 study from Spain determined a national minimal [ipfs.io]
A review of the epidemiology and classification of lymphedema on the backdrop of its clinical presentation reveals weaknesses of the present classification system, which, however, is the basis for the choice of optimal patient care. [doi.org]
Other clinical features that show variability among WRScases include mental retardation, hepatic and kidney dysfunction, cardiac abnormalities, exocrine pancreatic dysfunction, and neutropenia.Data on the epidemiology of WRS are limited, and the latest [pediatricendocrinology.pl]
Pathophysiology
Pancreatic pathophysiology Protein, chromosome or gene affected Inheritance Features in addition to neonatal diabetes and low birth weight Reduced β-cell function KATP channel Autosomal dominant or recessive Developmental delay and epilepsy Chromosome [rmsjournal.org]
Prevention
It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. [genecards.org]
Positively regulates Shh signaling by preventing the processing of the transcription factor GLI3 into its repressor form. [uniprot.org]
Patients need managment with insulin and appropriate treatment for other associated conditions.Early genetic verification of the syndrome can be useful for individualized medical support of the patients and preventing early mortality by providing multiorgan [pediatricendocrinology.pl]
SUFU is a known negative regulator of IHh pathway that prevents GLI-mediated transcription for the genes responsible for chondrocytes proliferation and differentiation during development. [ojrd.biomedcentral.com]