Ptosis, unilateral or bilateral, can be present. One patient was reported to have unilateral aniridia and a corneal leucoma. Tear duct atresia was reported in another individual. [disorders.eyes.arizona.edu]

We present details of a patient whose clinical presentation closely resembles the profile of Malpuech syndrome, but whose radiological features are more in keeping with published observations in Juberg-Hayward patients. [ncbi.nlm.nih.gov]

• Fishing

  CMA is more accurate than both FISH and G-band analysis alone. [wiki.ggc.edu]

  Brain CT scan, echocardiography, abdominal ultrasound scan, FISH analysis of chromosomal regions were normal. [onlinelibrary.wiley.com]

  They further used zebra fish model to strengthen their findings. Moreover, they analyzed CL-K1, the byproduct of COLEC11 pathway to study neural crest cells migration in affected patients. [123helpme.com]

  FISH analysis may be used in individuals with clinical features.[7] Differential Diagnosis[edit | edit source] WHS should be differentially diagnosed from: Proximal 4p deletion. it is disorder is a discrete syndrome, distinct from WHS.[9] WHS phenotype [physio-pedia.com]

• Developmental Disorder

  Mutations in MASP-3 have recently been found to be associated with Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome, a severe developmental disorder manifested by cleft palate, intellectual disability, and skeletal abnormalities ... [rcsb.org]

  Diagnosis Suggestive Findings The diagnosis of mandibulofacial dysostosis with microcephaly (MFDM) should be suspected in individuals with three or more of the following five major features: Mandibulofacial dysostosis, a developmental disorder of the [ncbi.nlm.nih.gov]

• Arachnodactyly

  Similarly, the four related patients reported by Al Gazali et al. [1994] with prenatal and postnatal growth retardation, anterior segment defects of the eye have distinctive features as arachnodactyly and other skeletal abnormalities, congenital heart [onlinelibrary.wiley.com]

  […] dysplasia, sensorineural hearing loss, and distinctive facial features Sillence syndrome Urogenital adysplasia MOGS-CDG (CDG-IIb) Familial Mediterranean fever Cardiomyopathy cataract hip spine disease Spinocerebellar ataxia 11 Congenital contractural arachnodactyly [checkrare.com]

• Diarrhea

  The clinical diagnosis of HSP was supported strongly by the following characteristic manifestations: vascular purpura, arthralgia of the lower limbs, abdominal pain, and hemorrhagic diarrhea. [kundoc.com]

  see abetalipoproteinemia microtia, absent patellae, micrognathia syndrome, see Meier-Gorlin syndrome microvillous atrophy, see microvillus inclusion disease microvillous inclusion disease, see microvillus inclusion disease microvillus atrophy with diarrhea [herenciageneticayenfermedad.blogspot.com]

  Landau-Kleffner syndrome Tetrasomy 9p Brachydactylous dwarfism Mseleni type Synovial chondromatosis, familial with dwarfism Florid cemento-osseous dysplasia Optic atrophy polyneuropathy deafness 2-methylbutyryl-CoA dehydrogenase deficiency Congenital chloride diarrhea [checkrare.com]

• Lacrimation

  Some of the main clinical characteristics of the LADD syndrome are as follows: lacrimal anomalies including nasolacrimal duct obstruction with chronic disease of the lacrimal apparatus and hypoplasia or aplasia of the lacrimal glands 5,7,8 ; auricular [jordi.com.br]

  Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities 0 *Ectromelia Developmental Disabilities Face/abnormalities. [reference.md]

  Lower lid clefts, absent eyelashes, and lacrimal system anomalies may be seen in either condition. [ncbi.nlm.nih.gov]

  Brachydactyly Mononen type Kniest like dysplasia lethal Pierson syndrome Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Vascular hyalinosis Lujan syndrome Hydrocephalus obesity hypogonadism Tetraamelia with ectodermal dysplasia and lacrimal [checkrare.com]

• Unilateral Ptosis

  Facial dysmorphism included an extremely large anterior fontanelle (9 × 4 cm), eyelid triad with telecanthus, unilateral ptosis, low-set ears, and micrognathia (Fig. 3). The median, supra-umbilical depression was of about 2 × 4 cm (Fig. 4). [onlinelibrary.wiley.com]

• Brachydactyly

  […] stature Angioma hereditary neurocutaneous Mucopolysaccharidosis type IIIC Macrozoospermia Ichthyosis prematurity syndrome Chromosome 12p duplication Acro-pectoro-renal field defect Spinal muscular atrophy 1 Facial onset sensory and motor neuronopathy Brachydactyly [checkrare.com]

  Syndrome involves head (cleft lip/palate, microcephaly, hypertelorism, broad nose, bowed and upward-slanting eyebrows, and ptosis), skeleton (hypoplastic stiff and distally placed thumbs, brachydactyly, limited elbow extension, anomalous carpal bones, [accessanesthesiology.mhmedical.com]

  Brachydactyly, nail hypoplasia, and abnormal palmar creases were present in less than 10% of patients. Genital malformations Ambiguous genitalia were found in 20/117 (17.1%, table 6). [jmg.bmj.com]

• Short Forearm

  forearms and legs with stubby fingers, cystic dysplasia of the kidneys, and a seizure disorder with developmental delay. [accessanesthesiology.mhmedical.com]

• Hip Dislocation

  dislocation　(股関節脱臼)　[HP:0002827]　[15111] 　Low-set ears　(耳介低位)　[HP:0000369]　[09007] 　Prominent coccyx　(目立つ尾骨)　[HP:0040016]　[1147] 　Umbilical hernia　(臍ヘルニア)　[HP:0001537]　[1201] (UR-DBMS) 【一般】*中等度の精神遅滞 (IQ 45-60) (4/4) 　*低身長 (- 3 〜 - 5SD) (4/4) 【眼】*両眼開離 [syndromefinder.ncchd.go.jp]

  […] dystrophy Cockayne syndrome type I 15q13.3 microdeletion syndrome Sea-Blue histiocytosis Cat eye syndrome Anencephaly Siderius X-linked mental retardation syndrome Cor triatriatum sinister Laing distal myopathy Limb-mammary syndrome Beukes familial hip [checkrare.com]

• Small Hand

  Hands were small, with a bilaterally short fifth finger, and feet were broad. A severe axial hypotonia was also scored. At 19 months, she could walk alone, and needed nocturnal gavage feeding. [onlinelibrary.wiley.com]

  Her fingers were long and she had fleshy hands. [findzebra.com]

• Lordosis

  + − + + Telecanthus − + + + Bifid tip of the nose − − − + Dysplastic/low set ears + − − − Down-turned corners of the mouth + − − + Cleft lip/palate − − + + Accessory nipple + − + − Cryptorchid testes + − − + Short/clinodactilous fifth finger − + + − Lordosis [onlinelibrary.wiley.com]

  […] coccyx/caudal appendage Mental retardation Postnatal growth deficiency Telecanthus Bifid tip of the nose Dysplastic/low set ears Down-turned corners of the mouth Cleft lip/palate Accessory nipple Cryptorchid testes Short/clinodactilous fifth finger Lordosis [documents.tips]

• Hearing Impairment

  Auditory anomalies include an enlarged ear ridge, and hearing impairment associated with congenital otitis media (or "glue ear", inflammation of the middle ear) and sensorineural hearing loss. [owlapps.net]

  At age three years, intellectual disability, hyperactivity and obsessive compulsive disorder were diagnosed; hearing impairment was diagnosed at age six, managed with the use of hearing aids. [en.wikipedia.org]

• Low Set Ears

  Patient at 2 years 10 months of age: eyelid triad with telecanthus, right ptosis, low-set ears, and micrognathia. Patient's peculiar umbilical depression (2 × 4 cm). [onlinelibrary.wiley.com]

  Patient at 2 years 10months of age: eyelid triadwith telecanthus,right ptosis, low-set ears, and micrognathia.Fig. 4. [documents.tips]

  […] syndrome: Thymic hypoplasia, hypoparathyroidism, cardiac defects (truncus arteriosus, interrupted aortic arch) same spectrum at velocardial facial with same deletion of 22q –Trisomy 13: Microcephaly, cutis aplasia, polydactyly cardiac defects –Trisomy 18: Low-set [checkorphan.org]

  Although 70% of the affected patients present cup-shaped ears, the condition was not observed in this patient. However, she has low-set ears, a relevant sign in other cases 2,5,9-11. [jordi.com.br]

  Long philtrum; Micrognathia; [Ears]; Prominent ears; Low-set ears; Rotated ears; Hearing loss, sensorineural (in patients with larger deletions); Structural inner ear abnormalities (in patients with larger deletions); Vestibular anomalies (less common [findzebra.com]

• Large Fontanel

  Other features include malar hypoplasia, large fontanelle, cleft lip and palate, omphalocele, seizures, polycystic kidneys, and deafness. Facial Cleft Syndrome, Gypsy type. First was described in 1983 by G. [accessanesthesiology.mhmedical.com]

  Other features include urogenital abnormalities (micropenis, hypospadias, renal anomalies), malar hypoplasia, large fontanelle, omphalocele, seizures, polycystic kidneys, and deafness. Cardiac and renal abnormalities may also be present. [accesspediatrics.mhmedical.com]

• Seizure

  Other features include malar hypoplasia, large fontanelle, cleft lip and palate, omphalocele, seizures, polycystic kidneys, and deafness. Facial Cleft Syndrome, Gypsy type. First was described in 1983 by G. [accessanesthesiology.mhmedical.com]

  Other features include urogenital abnormalities (micropenis, hypospadias, renal anomalies), malar hypoplasia, large fontanelle, omphalocele, seizures, polycystic kidneys, and deafness. Cardiac and renal abnormalities may also be present. [accesspediatrics.mhmedical.com]

  Four patients developed seizures between ages 18 months and 12 years; 3 had generalized seizures and 1 had myoclonic seizures. [findzebra.com]

  The medical management mainly looks towards:[7] Seizures: Appropriate medication based on the type of seizure can be given by the neurophysician. [physio-pedia.com]

• Confusion

  Because choanal atresia and ear anomalies comprise two of four major clinical diagnostic criteria for CHARGE syndrome, the potential for diagnostic confusion exists: of the 31 individuals reported with MFDM for whom detailed (individual) clinical and [ncbi.nlm.nih.gov]

  Two key epidemiological terms, incidence and prevalence, may therefore easily become confused. [academic.oup.com]

  However, in the absence of CO, anterior chamber abnormalities could conceivably be confused with other malformation syndromes (for example, Walker-Warburg syndrome or Peters’ plus syndrome). [jmg.bmj.com]

• Irritability

  Case report A 61 year old man was referred with a 2 month history of ocular irritation in the left eye. [bjo.bmj.com]

  In urinary diversion using isolated gut segment, secondary malignancy as adenocarcinomas resulting of the irritation of the intestinal mucosa by the contact with urine is not uncommon, which has been rarely reported and is a secondary malignancy as urothelial [hindawi.com]

Treatment Treatment Options: No effective general treatment has been reported. [disorders.eyes.arizona.edu]

[…] thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment [books.google.com]

No Treatment Girls with primary ovarian failure received oestrogen/progesterone treatment starting age 13. [cochranelibrary.com]

[…] difficult to see on fetal ultrasound –Screening Echo for cardiac anomalies and –Chest X-ray for presence of thymus o Screenings –Neonatal and periodic hearing screening –Calcium level and immunoglobulins for DiGeorge o Dental and speech evaluations Prognosis [checkorphan.org]

Vermi et al., “The Muir-Torre syndrome: a typical case of misdiagnosis and consequent worsened prognosis,” International Journal of Colorectal Disease, vol. 30, no. 3, pp. 431–432, 2015. View at: Publisher Site | Google Scholar J. Švec, L. [hindawi.com]

Furthermore, the complication of both has a worse prognosis compared with patients with only one of these diseases. However, the details of the underlying mechanisms of this worsened prognosis have not been clear. [searchworks.stanford.edu]

Together, these findings demonstrate a role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome . [pesquisa.bvs.br]

Together, these findings demonstrate a role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome. [go.gale.com]

[…] written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology [books.google.com]

Since the genetic factor is an important etiologic factor in both conditions. This issue begs further research to determine the genetic status of such patients to comment on the relationship between these two entities. [jisponline.com]

/medlineplus.gov/genetics/condition/3mc-syndrome From HPO Cryptorchidism MedGen UID: 8192 •Concept ID: C0010417 • Congenital Abnormality Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology [ncbi.nlm.nih.gov]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Many epidemiological studies and a few meta-analyses on the relation between dairy product consumption and risk of metabolic syndrome were recently conducted using observational studies published up to March 2015. [hal.archives-ouvertes.fr]

[…] at risk, testing methods, the prevalence and the epidemiology of down syndrome and to discuss the abortion debate that is closely related to this condition. [123helpme.com]

Relevant External Links for MASP1 Genetic Association Database (GAD) MASP1 Human Genome Epidemiology (HuGE) Navigator MASP1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MASP1 No data available for Genatlas for MASP1 Gene Molecular characterization [genecards.org]

Pathophysiology Unknown. Diagnosis Based on clinical stigmata and family history. Clinical aspects All individuals had facial malformations, including cleft lip and palate, hypertelorism, and a wide forehead. [accesspediatrics.mhmedical.com]

This justifies the use of Drosophila Malpighian tubules as model system to gain insights into pathophysiology of human kidneys (Dow and Romero, 2010; Miller et al., 2013). [frontiersin.org]

This is predominantly a clinical (rather than pathophysiologic) distinction based on the presence of limb anomalies in the former category, and their absence in the latter. Prevalence The prevalence of MFDM has not been established. [ncbi.nlm.nih.gov]

[…] palate associated with lip pits * Cause associated with maternal exposure to corticosteroids, phenytoin, valproic acid, thalidomide, alcohol, cigarettes, dioxin, or retinoic acid; and maternal diabetes mellitus, hormone imbalance, and vitamin deficiency Prevention [checkorphan.org]

Mother Yi said during pregnancy she didn't take any medications except some abortion prevention agents prescribed by the doctors at Xiangxiang Women and Children's Hospital. [whatsonxiamen.com]

Early diagnosis and repair of congenital heart defects usually prevents Eisenmenger syndrome. If it does develop, treatment involves regular medical visits and medications to improve symptoms. [mayoclinic.org]

Periodontal treatment for aggressive periodontitis was aimed at eliminating or reducing the pathogenic micro-organisms and prevention of further bone loss. [jisponline.com]

According to Centers for Disease Control and Prevention, (n.d. para 3).”Breathing secondhand smoke interferes with the normal functioning of the heart, blood, and vascular systems in ways that increase the risk of having a heart attack”. [brightkite.com]