Cleft palate, and Myalgia

Diseases related with Cleft palate and Myalgia

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


Top matches:

Medium match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Medium match BRITTLE CORNEA SYNDROME


Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Medium match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

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Other less relevant matches:

Medium match CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA


Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Low match SCHWARTZ-JAMPEL SYNDROME


Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

SCHWARTZ-JAMPEL SYNDROME Is also known as myotonic chondrodystrophy|schwartz-jampel-aberfeld syndrome|burton skeletal dysplasia|sjs|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|dysostosis enchondralis metaepiphysaria, catel-hempel type|burton syndrome|aberfeld syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME

Low match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Low match MYOPATHY, DISTAL, 1; MPD1


MYOPATHY, DISTAL, 1; MPD1 Is also known as myopathy, late distal hereditary|laing distal myopathy|myopathy, distal, early-onset, autosomal dominant

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • High palate
  • Tremor
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, DISTAL, 1; MPD1

Low match DOPAMINE BETA-HYDROXYLASE DEFICIENCY


Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

DOPAMINE BETA-HYDROXYLASE DEFICIENCY Is also known as norepinephrine deficiency|noradrenaline deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain
  • Ptosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOPAMINE BETA-HYDROXYLASE DEFICIENCY

Low match LAING EARLY-ONSET DISTAL MYOPATHY


Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.

LAING EARLY-ONSET DISTAL MYOPATHY Is also known as distal myopathy type 1|mpd1|gowers disease|myopathy, distal, swedish|muscular dystrophy, distal, late-onset, autosomal dominant

Related symptoms:

  • Muscle weakness
  • Myopathy
  • Proximal muscle weakness
  • Distal muscle weakness
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LAING EARLY-ONSET DISTAL MYOPATHY

Low match MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX


X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Is also known as xmea

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

Top 5 symptoms//phenotypes associated to Cleft palate and Myalgia

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Proximal muscle weakness Skeletal muscle atrophy Short stature Muscular hypotonia Feeding difficulties in infancy Short neck Respiratory insufficiency Talipes equinovarus Generalized hypotonia Hypertelorism Hearing impairment Muscular dystrophy Gait disturbance Inguinal hernia Umbilical hernia Distal muscle weakness Neonatal hypotonia Seizures Intellectual disability Prominent nasal bridge Polyhydramnios Flexion contracture Elevated serum creatine phosphokinase Edema Abnormal facial shape Pain Low-set ears Narrow mouth Myotonia

Rare Symptoms - Less than 30% cases


Hypocalcemia Laryngomalacia Hypoparathyroidism Polycystic kidney dysplasia Abnormality of the urinary system Generalized muscle weakness Vesicoureteral reflux Overfolded helix Tetany Cardiomyopathy Growth delay Mildly elevated creatine phosphokinase Rimmed vacuoles Abnormality of epiphysis morphology Abnormality of the pharynx Anxiety Attention deficit hyperactivity disorder Kyphosis Mask-like facies Difficulty running Type 1 muscle fiber predominance Facial palsy Global developmental delay Kyphoscoliosis Microcornea Microcephaly Arthrogryposis multiplex congenita Micrognathia Strabismus Downslanted palpebral fissures Motor delay Feeding difficulties Cryptorchidism Cataract Long philtrum Hip dysplasia Severe postnatal growth retardation Narrow face Blepharophimosis Joint hyperflexibility Weak voice Lower limb muscle weakness Pes planus Sensorineural hearing impairment Respiratory distress Glaucoma Peripheral neuropathy Depressivity Hyporeflexia Upslanted palpebral fissure Osteoporosis Pectus excavatum Myopia Arachnodactyly Conductive hearing impairment Abnormality of the dentition Sensory impairment Epicanthus Autophagic vacuoles Intellectual disability, mild Splenomegaly Malar flattening Immunodeficiency Microphthalmia Renal hypoplasia Abnormality of cardiovascular system morphology Thrombocytopenia Aganglionic megacolon Choanal atresia Obesity Spina bifida Left ventricular hypertrophy Hypospadias Gowers sign Carious teeth Patent ductus arteriosus Arthritis Anal atresia Long face Bulbous nose Autoimmunity Asthma Progressive muscle weakness Telecanthus Behavioral abnormality Short philtrum Intestinal malrotation Gastrointestinal hemorrhage Gastroesophageal reflux Specific learning disability Hypothyroidism Tetralogy of Fallot Autism Constipation Failure to thrive Atrial septal defect Abnormality of the ureter Limb-girdle muscle weakness Distichiasis Aplasia/Hypoplasia affecting the eye Trismus Blepharospasm Abnormal eyebrow morphology Malignant hyperthermia Sprengel anomaly Hip contracture Flexion contracture of toe Abnormality of immune system physiology Increased number of teeth Spinal rigidity High pitched voice Skeletal muscle hypertrophy Proximal muscle weakness in lower limbs Elbow dislocation Ectopia lentis Cachexia Wrist flexion contracture Abnormally ossified vertebrae Hydrocephalus Right bundle branch block Ventricular septal defect Optic atrophy Intrauterine growth retardation Wide nasal bridge Abnormality of dental enamel Bundle branch block Abnormally straight spine Long eyelashes in irregular rows Elevated aldolase level Protrusio acetabuli Difficulty climbing stairs Testicular torsion Odontogenic neoplasm Hypoventilation Shoulder flexion contracture Pursed lips Prenatal movement abnormality Progressive proximal muscle weakness Metatarsus valgus Ventricular hypertrophy Blurred vision Limb muscle weakness Abnormal aortic arch morphology Ragged-red muscle fibers Dilated cardiomyopathy Pes cavus Tremor Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Hypertensive crisis Recurrent hypoglycemia Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Platybasia Small earlobe Abnormal aortic valve morphology Multiple myeloma Hypothermia Seborrheic dermatitis Abnormality of the nervous system Amyloidosis Epiphora Abnormal autonomic nervous system physiology Dehydration Neonatal hypoglycemia Hypotension Syncope Vertigo Hypoglycemia Calf muscle hypertrophy Vomiting Hypertension Toe extensor amyotrophy Amyotrophy of ankle musculature Weakness of long finger extensor muscles Left atrial enlargement Abnormality of the mitochondrion EMG: neuropathic changes Neck muscle weakness Abnormal thrombocyte morphology Nocturia Lethargy Abnormality of the thorax Distal amyotrophy Small hand Clumsiness Frequent falls Fasciculations Limb-girdle muscular dystrophy Steppage gait Chronic otitis media Hand polydactyly Retrograde ejaculation Cholelithiasis Nasal speech Schizophrenia Orthostatic hypotension Elevated hepatic transaminase Hypopigmented skin patches Hypertrophic cardiomyopathy Purpura Falls Acne Hypoplasia of the thymus Meningocele Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Intermittent hypothermia Abnormal eyelid morphology Truncus arteriosus Abnormality of the skull Dysphasia Multiple renal cysts Patellar dislocation Turricephaly Bipolar affective disorder Abnormal lung lobation Posterior embryotoxon Foot polydactyly Hyperthyroidism Bowel incontinence Dysphonia Abnormal muscle morphology Coxa vara Renal insufficiency Stroke Abnormality of the kidney Proteinuria Hydronephrosis Acidosis Diabetes mellitus Rod-cone dystrophy Abnormal heart morphology Nystagmus Ectodermal dysplasia Abnormality of hair pigmentation Decreased corneal thickness Keratoglobus Flat cornea Shoulder dislocation Corneal scarring Corneal erosion Sclerocornea Soft skin Hematuria Bilateral sensorineural hearing impairment Keratoconus Progressive sensorineural hearing impairment Distal renal tubular acidosis Uterus didelphys Hypocalcemic seizures Aplasia of the uterus Ovarian cyst Vaginal atresia Renal tubular acidosis Basal ganglia calcification Unilateral renal agenesis Nephrotic syndrome Psoriasiform dermatitis Polycystic ovaries Chronic kidney disease Hyperkinesis Ischemic stroke Nephrocalcinosis Multicystic kidney dysplasia Horizontal nystagmus Renal dysplasia Megalocornea Hallux valgus Pseudopapilledema Paresthesia Facial paralysis Axonal degeneration Scapular winging Narrow palpebral fissure Hoarse voice Hypotelorism Bifid uvula Postural instability Facial asymmetry Dysesthesia Finger syndactyly Paralysis Rigidity Deeply set eye Hyperhidrosis Syndactyly Abnormality of the skeletal system Fatigue Depressed nasal bridge Chronic pain Neuritis Increased susceptibility to fractures Retinal detachment Hyperextensible skin Corneal dystrophy Cutis laxa Congenital hip dislocation Blue sclerae High myopia Mitral valve prolapse Recurrent fractures Bruising susceptibility Peripheral axonal degeneration Joint hypermobility Pulmonic stenosis Hip dislocation Camptodactyly Visual loss Hernia Brachial plexus neuropathy Radial head subluxation Cutis gyrata of scalp Proximal renal tubular acidosis Septate vagina Wormian bones Type 1 and type 2 muscle fiber minicore regions Hyperlordosis Apnea Low-set, posteriorly rotated ears Skeletal dysplasia Delayed skeletal maturation Arrhythmia Hypertonia Visual impairment Sternocleidomastoid amyotrophy Joint stiffness Frog-leg posture Tibialis atrophy Rectus femoris muscle atrophy Muscle fiber hypertrophy Internally nucleated skeletal muscle fibers Type 1 muscle fiber atrophy Minicore myopathy Functional respiratory abnormality Generalized limb muscle atrophy Irritability Pectus carinatum Increased nuchal translucency Abnormality of the metaphysis Coxa valga Generalized hirsutism EMG abnormality Low anterior hairline Increased bone mineral density Nephrolithiasis Decreased body weight Bowing of the long bones Pulmonary arterial hypertension Neurological speech impairment Abnormality of the ribs Decreased testicular size Dental malocclusion Full cheeks Everted lower lip vermilion Flat face Micromelia Genu valgum Platyspondyly Muscle fiber necrosis 3-Methylglutaconic aciduria Thickening of the glomerular basement membrane Micropenis Aciduria Webbed neck Single transverse palmar crease Pulmonary hypoplasia Ophthalmoplegia Dolichocephaly Respiratory tract infection Joint laxity Respiratory failure Decreased fetal movement Recurrent respiratory infections Pneumonia Areflexia Clinodactyly Unilateral renal dysplasia Parathyroid hypoplasia Abnormality of T cell physiology Unilateral deafness Bilateral renal dysplasia Cyanosis Hydrops fetalis Axial muscle weakness Centrally nucleated skeletal muscle fibers Increased connective tissue Exercise-induced myalgia Shoulder girdle muscle weakness Nemaline bodies Fetal akinesia sequence Facial diplegia Bell-shaped thorax Distal arthrogryposis Cystic hygroma Bradycardia Myopathic facies Increased variability in muscle fiber diameter Bilateral cryptorchidism Congenital muscular dystrophy Akinesia Pterygium Tented upper lip vermilion Scrotal hypoplasia External ophthalmoplegia Limited extraocular movements



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