TY - JOUR T1 - Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. [unboundmedicine.com]

Overview A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay. [checkorphan.org]

Carnevale F, Krajewska G, Fischetto R, et al: Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. Am J Med Genet 33:186, 1989. [PubMed: 2569826] [accessanesthesiology.mhmedical.com]

Disease relevance of Hip Dislocation We report a distinct syndrome of eyelid ptosis, convergent strabismus, abdominal muscle defect, hip dislocation, cryptorchidism and developmental delay in two brothers [1]. [wikigenes.org]

delay in two sibs. [genome.jp]

LPS intends to mimic an demagogic alter in the periphery involving an spread in circulating cytokines such as IL-1, TNF- and IL-6, and it can be interpreted as a pattern of unrestricted systemic swelling in universal. [sarcomacancer.org]

During surgical procedures, additional hydrocorti- sone can be administered either as constant intrave- nous infusion or intramuscular injection. [sarcomacancer.org]

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

Abstract We report a distinct syndrome of eyelid ptosis, convergent strabismus, abdominal muscle defect, hip dislocation, cryptorchidism and developmental delay in two brothers. [unboundmedicine.com]

Genetic disorder with facial features, hip dislocation, and diminished abdominal musculature. Ptosis Strabismus Diastasis. Extremely rare. [accessanesthesiology.mhmedical.com]

Symptoms - Ptosis strabismus diastasis * Cross eyed * Drooping eyelids * Developmental delay * Undescended testes * Abdominal muscle defects * Hip dislocation * Small eyelid * Limited elbow mobility * Torticollis * Short fingers * Short toes Causes - [checkorphan.org]

High impact information on Hip Dislocation Hip dislocation and manganese deficiency [5]. [wikigenes.org]

MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS monofixation syndrome Ohdo syndrome Oliver-McFarlane Syndrome Ophthalmoplegia Totalis with Ptosis and Miosis Otofacioosseous-Gonadal Syndrome paralytic squint Proportionate Dwarfism, with Hip [rgd.mcw.edu]

Symptoms - Ptosis strabismus diastasis * Cross eyed * Drooping eyelids * Developmental delay * Undescended testes * Abdominal muscle defects * Hip dislocation * Small eyelid * Limited elbow mobility * Torticollis * Short fingers * Short toes Causes - [checkorphan.org]

[…] syndrome, see 3MC1 (257920). (265050) MalaCards based summary : 3mc Syndrome 2, also known as ptosis of eyelids with diastasis recti and hip dysplasia, is related to 3mc syndrome and alopecia-intellectual disability syndrome, and has symptoms including torticollis [malacards.org]

[…] paralytic squint Proportionate Dwarfism, with Hip Dislocation Ptosis, Strabismus, and Ectopic Pupils Singh Chhaparwal Dhanda Syndrome Skeletal Defects, Genital Hypoplasia, And Mental Retardation Testicular Anomalies with or without Congenital Heart Disease Torticollis [rgd.mcw.edu]

[…] thumbs-arthrogryposis, thurston, thymic, thymus, thyroglossal, thyroid, thyroiditis, thyrotoxic, thyrotrophic, tibia, tibiae, tibial, tibio, tick, tick-borne, tinnitus, tissue, toluene, tome, tongue, tonic, toriello, torrance-luton, torres, torsade, torti, torticolis, torticollis [rapsodyonline.eurordis.org]

TY - JOUR T1 - Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. [unboundmedicine.com]

Prognosis - Ptosis strabismus diastasis Not supplied. [checkorphan.org]

Ptosis Strabismus Diastasis. Extremely rare. The two brothers described had consanguineous parents, hence autosomal recesssive inheritance has been suggested. Diagnosis is based on the clinical findings. [accessanesthesiology.mhmedical.com]

Browse our catalog of research reagents for Carnevale Krajewska Fischetto Syndrome including antibodies and ELISA kits against MCA, STRABISMUS. [novusbio.com]

Mehes Syndrome Mehta Lewis Patton Syndrome MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS monofixation syndrome Ohdo syndrome Oliver-McFarlane Syndrome Ophthalmoplegia Totalis with Ptosis and Miosis Otofacioosseous-Gonadal Syndrome [rgd.mcw.edu]

In the first 4 months of life, esotropia may transiently occur in normal children * Congenital esotropia –Pronounced medial deviation of one eye in the first year of life –Occurs in otherwise healthy infants * Retinoblastoma –Frequent early finding [checkorphan.org]

Facial Asymmetry, Strabismus, and Transverse Earlobe Crease Developmental Dysplasia of the Hip 1 Developmental Dysplasia of the Hip 2 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions Duane retraction syndrome Dwarfism Tall Vertebrae esotropia [rgd.mcw.edu]

[55] Blaichman syndrome [56] Blepharo cheilo dontic syndrome aka BCD syndrome, Blepharocheilodontic syndrome Elschnig syndrome [57], [58] Blepharo facio skeletal syndrome [59] Blepharophimosis nasal groove growth retardation Blepharophimosis ptosis esotropia [en.wikipedia.org]

[…] equine, ercole, erdheim-chester, ermine, erosive, eruption, erythema, erythematosus, erythermalgia, erythroblastic, erythroblastopenia, erythrocyte, erythroderma, erythrokeratodermia, erythromelalgia, erythropoietic, esophageal, esophagitis, esophagus, esotropia [rapsodyonline.eurordis.org]

Cardiomyopathy with myopathy due ad FEVR LFS1 pigmentary defects hormone deficiency to COX deficency Exudative vitreoretinopathy 1 familial autosomal dominant Li Fraumeni syndrome Terminal osseous dysplasia type 1B Usher syndrome cardiopathy Mitral valve prolapse [yumpu.com]

[…] preexcitation, preeyasombat-varavithya, pregnancy, preis, prekallikrein, premature, prematurity, presenile, preus, primary, primordial, pro-opiomelanocortin, procedures, proctitis, progeroid, prognathism, progrediens, progressiva, progressive, prohormone, prolapse [rapsodyonline.eurordis.org]

ptosis Prevention - Ptosis strabismus diastasis Not supplied. [checkorphan.org]

impairment or space- occupying lesion CNS etiologies –Associated with hydrocephalus and periventricular leukomalacia, especially in premature infants –Associated with intracranial masses due to CN VI compression Möbius syndrome –VI, VII, and XII nerve [checkorphan.org]

Consanguinity in their parents suggests autosomal recessive inheritance. [unboundmedicine.com]

The two brothers described had consanguineous parents, hence autosomal recesssive inheritance has been suggested. Diagnosis is based on the clinical findings. [accessanesthesiology.mhmedical.com]

For these reasons, expand-ing Halls proposal, we suggest that the four entities better fitwith a single recessive spectrum than as separate disorders.We suggest referring to this clinical spectrum as 3MCsyndrome (for Malpuech-Michels-Mingarelli-Carnevale [documents.tips]

There is considerable overlap between them, which have similarities in facial appearance, leading to the suggestion that they should all be considered part of the same phenotypic spectrum known as 3MC syndrome. [genome.jp]

Researchers suggest that similar pathways in the immune system can compensate for problems in the lectin complement pathway, which explains why immune system abnormalities are not part of 3MC syndrome. [ghr.nlm.nih.gov]

TY - JOUR T1 - Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. [unboundmedicine.com]

Carnevale F, Krajewska G, Fischetto R, et al: Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. Am J Med Genet 33:186, 1989. [PubMed: 2569826] [accessanesthesiology.mhmedical.com]

Disease relevance of Hip Dislocation We report a distinct syndrome of eyelid ptosis, convergent strabismus, abdominal muscle defect, hip dislocation, cryptorchidism and developmental delay in two brothers [1]. [wikigenes.org]

Proportionate Dwarfism, with Hip Dislocation Ptosis, Strabismus, and Ectopic Pupils Singh Chhaparwal Dhanda Syndrome Skeletal Defects, Genital Hypoplasia, And Mental Retardation Testicular Anomalies with or without Congenital Heart Disease Torticollis Keloids Cryptorchidism [rgd.mcw.edu]

Journal Am J Med Genet 16:475-80 (1983) DOI: 10.1002/ajmg.1320160405 Reference PMID: 2569826 Authors Carnevale F, Krajewska G, Fischetto R, Greco MG, Bonvino A Title Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental [genome.jp]

Facial features include depressed nasal bridge, hypertelorism, blepharophimosis, blepharoptosis, and paresis of ocular muscles with strabismus. The ears are low set with a folded helix, and the external auditory canal may be atretic or absent. [accessanesthesiology.mhmedical.com]

CLN10 disease congenital neutropenia, see severe congenital neutropenia congenital nonbullous ichthyosiform erythroderma, see nonbullous congenital ichthyosiform erythroderma congenital ocular coloboma, see coloboma congenital ophthalmoplegia and facial paresis [herenciageneticayenfermedad.blogspot.com]