Cleft palate, and Muscle cramps

Diseases related with Cleft palate and Muscle cramps

In the following list you will find some of the most common rare diseases related to Cleft palate and Muscle cramps that can help you solving undiagnosed cases.


Top matches:

Low match CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Low match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Low match NEU-LAXOVA SYNDROME


Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

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Other less relevant matches:

Low match CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT


Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT

Low match MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (OMIM ) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C Is also known as cms id, formerly|myasthenia, familial infantile, 1, formerly|myasthenic syndrome, congenital, type id|cms1d, formerly|fim1, formerly

Related symptoms:

  • Generalized hypotonia
  • Strabismus
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1


Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Low match OROFACIAL CLEFT 5; OFC5


OROFACIAL CLEFT 5; OFC5 Is also known as cleft lip with or without cleft palate, nonsyndromic, 5

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MESH MENDELIAN

More info about OROFACIAL CLEFT 5; OFC5

Low match OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6


OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 Is also known as cleft lip with or without cleft palate, nonsyndromic, 6

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6

Top 5 symptoms//phenotypes associated to Cleft palate and Muscle cramps

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Arthrogryposis multiplex congenita Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Muscle cramps. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Flexion contracture Muscular dystrophy Proximal muscle weakness Decreased fetal movement Fatigue Myopathy Seizures Elevated serum creatine phosphokinase Cryptorchidism Cleft upper lip Malignant hyperthermia Rhabdomyolysis Intellectual disability Facial palsy Abnormal facial shape Fever Global developmental delay Ptosis Skeletal muscle atrophy Feeding difficulties Motor delay Strabismus

Rare Symptoms - Less than 30% cases


Hypogonadism Cleft lip Tachycardia Bifid uvula Exercise intolerance Abnormality of the coagulation cascade Microcephaly Limb muscle weakness Lumbar hyperlordosis Patent ductus arteriosus Myoglobinuria Acute kidney injury Easy fatigability Gowers sign Myalgia Fatigable weakness Limb-girdle muscle weakness Renal insufficiency EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Kyphosis Hypertelorism Ophthalmoparesis Type 1 muscle fiber predominance Areflexia Polyhydramnios Talipes equinovarus Kyphoscoliosis Myopathic facies Intrauterine growth retardation Pes planus Growth delay Micrognathia Cardiomyopathy Type 2 muscle fiber atrophy Weak cry Decreased size of nerve terminals Abnormality of the immune system Abnormality of the dentition Ataxia Decreased muscle mass Respiratory insufficiency due to muscle weakness Scaphocephaly Pain Long face Anemia Delayed speech and language development Brachydactyly Splenomegaly Atrial septal defect Encephalopathy Visual loss Rod-cone dystrophy Jaundice Hepatosplenomegaly Mixed respiratory and metabolic acidosis Mental deterioration Dental malocclusion Muscular hypotonia Autistic behavior Poor head control Yellow subcutaneous tissue covered by thin, scaly skin Thin vermilion border Difficulty walking Joint laxity Distal muscle weakness Waddling gait Frequent falls Knee flexion contracture Scapular winging Ragged-red muscle fibers Hypermetropia Mandibular prognathia Difficulty climbing stairs Difficulty running Muscle fiber tubular inclusions Increased jitter at single fibre EMG Favorable response of weakness to acetylcholine esterase inhibitors Generalized weakness of limb muscles Abnormal peripheral nervous system synaptic transmission Paralysis Dysarthria Dysphagia Respiratory failure Sinus tachycardia Migraine Retinal dystrophy Metabolic acidosis Pes cavus Hyperhidrosis Acidosis Rigidity Hyperlordosis Stroke Pectus carinatum Lactic acidosis Joint hypermobility Breech presentation Hyperphosphatemia Abnormal bleeding Pectus excavatum Webbed neck Hypotension Low hanging columella Lymphedema Thoracic kyphosis Shock Tachypnea Ventricular arrhythmia Deep philtrum Myotonia Ventricular fibrillation Hyperkalemia Arrhythmia Midface retrusion Hemolytic anemia Decreased mean corpuscular volume Abnormality of the sternum Tetraparesis Hyperbilirubinemia Purpura Spastic tetraparesis Hemiplegia Emotional lability Aphasia Long upper lip Reticulocytosis Progressive encephalopathy Congenital ptosis Increased muscle fatiguability Dilatation Recurrent myoglobinuria Exercise-induced muscle cramps Exercise-induced myoglobinuria Low-set ears Epicanthus Downslanted palpebral fissures Hypertonia Diaphragmatic eventration Respiratory arrest Malar flattening Abnormality of limbs Severe lactic acidosis Type III lissencephaly Osteomalacia Ablepharon Abnormality of the skeletal system Small face Type I transferrin isoform profile Chronic hepatitis Decreased serum insulin-like growth factor 1 Reduced antithrombin III activity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation Cataract Ventricular septal defect Pierre-Robin sequence Ventriculomegaly Short neck Edema Syndactyly Microphthalmia Abnormality of cardiovascular system morphology Clinodactyly Cerebellar hypoplasia Agenesis of corpus callosum Osteoporosis Proptosis Macrotia Osteopenia Hyperinsulinemic hypoglycemia Hypogonadotrophic hypogonadism Camptodactyly Generalized limb muscle atrophy Cognitive impairment Respiratory insufficiency Neonatal hypotonia Hypertrophic cardiomyopathy Hip dislocation Talipes Generalized muscle weakness Congenital hip dislocation Limb-girdle muscular dystrophy Spinal rigidity Centrally nucleated skeletal muscle fibers Nemaline bodies Skeletal myopathy Stooped posture Cardiac arrest Minicore myopathy Intellectual disability, mild Prominent forehead Hypothyroidism Dyspnea Hypoglycemia Elevated hepatic transaminase Abnormality of the liver Dilated cardiomyopathy Delayed puberty Hepatic steatosis Chest pain Hepatitis Retrognathia Abnormality of the pinna Short umbilical cord Trismus Abnormality of neuronal migration Opisthotonus Prominent occiput External genital hypoplasia Absent septum pellucidum Transposition of the great arteries Submucous cleft hard palate Abnormal eyelash morphology Severe intrauterine growth retardation Abnormality of the mouth Absent eyelashes Broad foot Abnormal eyelid morphology Abnormal cortical gyration Rocker bottom foot Lack of skin elasticity Generalized edema Abnormality of nervous system morphology Hydranencephaly Calcaneovalgus deformity Abnormality of the philtrum Abnormal nasolacrimal system morphology Abnormality of the cerebellar vermis Macrogyria Bifid uterus Choroid plexus cyst Aplasia/Hypoplasia involving the skeletal musculature Small placenta Bilateral cryptorchidism Radial deviation of finger Wide mouth Cerebral calcification Abnormal cardiac septum morphology Finger syndactyly Toe syndactyly Micromelia Ichthyosis Polymicrogyria Pulmonary hypoplasia Thick vermilion border Everted lower lip vermilion Ectodermal dysplasia Abnormality of the skin Renal agenesis Dandy-Walker malformation Limb undergrowth Large hands Sloping forehead Ambiguous genitalia Thick lower lip vermilion Depressed nasal ridge Pachygyria Abnormality of the hair Joint contracture of the hand Spina bifida Lissencephaly Pterygium Patent foramen ovale Rickets Ectropion Coarctation of aorta



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and High forehead, related diseases and genetic alterations Optic atrophy and Ambiguous genitalia, related diseases and genetic alterations Delayed speech and language development and Delayed eruption of teeth, related diseases and genetic alterations Depressed nasal bridge and Gliosis, related diseases and genetic alterations

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