High palate, and Congenital muscular dystrophy

Diseases related with High palate and Congenital muscular dystrophy

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


Top matches:

High match ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2


Related symptoms:

  • Scoliosis
  • Flexion contracture
  • High palate
  • Motor delay
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2

High match CLASSIC MULTIMINICORE MYOPATHY


CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

High match CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME


CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

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Other less relevant matches:

High match NEMALINE MYOPATHY 1; NEM1


Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

High match RIGID SPINE SYNDROME


Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

High match BETHLEM MYOPATHY


Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

High match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

High 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

High match MARINESCO-SJÖGREN SYNDROME


Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

High match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA


Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Top 5 symptoms//phenotypes associated to High palate and Congenital muscular dystrophy

Symptoms // Phenotype % cases
Scoliosis Very Common - Between 80% and 100% cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Flexion contracture Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with High palate and Congenital muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Myopathy

Uncommon Symptoms - Between 30% and 50% cases


Respiratory insufficiency

Common Symptoms - More than 50% cases


Proximal muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Motor delay

Common Symptoms - More than 50% cases


Facial palsy

Uncommon Symptoms - Between 30% and 50% cases


Spinal rigidity Short stature Muscular hypotonia Rigidity Increased variability in muscle fiber diameter Kyphosis Neonatal hypotonia Respiratory failure Skeletal muscle atrophy Muscle fiber necrosis Respiratory insufficiency due to muscle weakness Generalized muscle weakness Feeding difficulties Centrally nucleated skeletal muscle fibers Progressive muscle weakness Failure to thrive Congestive heart failure Kyphoscoliosis EMG: myopathic abnormalities Poor head control Edema Limb muscle weakness Growth delay Hyperlordosis Pes planus Ptosis Hyperkeratosis Mildly elevated creatine phosphokinase Axial muscle weakness Neck muscle weakness Minicore myopathy Arthrogryposis multiplex congenita Joint laxity Multiple joint contractures Joint stiffness Myopathic facies Nocturnal hypoventilation Difficulty climbing stairs Areflexia Waddling gait High pitched voice Generalized amyotrophy Pectus excavatum

Rare Symptoms - Less than 30% cases


Hypertension Hypertriglyceridemia Elevated serum creatine phosphokinase Knee flexion contracture Abnormal facial shape Shoulder girdle muscle atrophy Global developmental delay Slender build Distal lower limb amyotrophy Difficulty running Distal lower limb muscle weakness Facial diplegia Nemaline bodies Progressive proximal muscle weakness Bradycardia Cardiomyopathy Feeding difficulties in infancy Ankle contracture Limb-girdle muscular dystrophy Lipodystrophy Rimmed vacuoles Round face Hip dislocation Scarring Proximal amyotrophy Shoulder girdle muscle weakness Hyporeflexia Muscle stiffness Type 1 muscle fiber predominance Type 1 and type 2 muscle fiber minicore regions Intellectual disability Peroneal muscle atrophy Limb-girdle muscle atrophy Type 1 muscle fiber atrophy Elbow flexion contracture Pneumonia Talipes equinovarus Frequent falls Narrow face Retrognathia Recurrent respiratory infections Cryptorchidism Limited neck flexion Hearing impairment Follicular hyperkeratosis Restrictive deficit on pulmonary function testing Right ventricular hypertrophy Delayed puberty Respiratory distress Hypertonia Pes cavus Dyspnea Abnormality of the skeletal system Cataract Delayed gross motor development Hip dysplasia Decreased fetal movement Falls Pectus carinatum Abnormality of the metacarpal bones Abnormal aldolase level Nystagmus Dysphonia Abnormality of finger Ataxia Strabismus Microcephaly Short metatarsal Cubitus valgus Rectus femoris muscle atrophy Neoplasm External genital hypoplasia Frog-leg posture Mild global developmental delay Avascular necrosis of the capital femoral epiphysis Seizures Abnormal muscle morphology Abnormal lactate dehydrogenase activity Autophagic vacuoles Sternocleidomastoid amyotrophy Muscle flaccidity Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Cerebellar cortical atrophy Tibialis atrophy Metatarsus valgus Aplasia/Hypoplasia involving the skeletal musculature Type I diabetes mellitus Spasticity Congenital cataract Smooth philtrum Intellectual disability, severe Cerebellar atrophy Cerebral atrophy Synophrys Recurrent infections Cerebellar hypoplasia Dyskinesia Severe short stature Hypogonadism Neurological speech impairment Cerebral cortical atrophy Intellectual disability, moderate Gait ataxia Deeply set eye Short palm Microcornea Infantile muscular hypotonia Sensorimotor neuropathy Epicanthus Sandal gap Pain Coxa valga Hypergonadotropic hypogonadism Peripheral neuropathy Dysarthria Short thumb Optic atrophy Brachydactyly Limb ataxia Hypertrichosis Specific learning disability Decreased antibody level in blood Short metacarpal Progressive cerebellar ataxia Micrognathia Osteolysis Abnormality of the dentition Insulin-resistant diabetes mellitus Prominent superficial veins Calcinosis Vertebral compression fractures Osteolytic defects of the phalanges of the hand Progeroid facial appearance Down-sloping shoulders Narrow nose Premature loss of teeth Broad distal phalanx of finger Short clavicles Arthropathy Prematurely aged appearance Reduced subcutaneous adipose tissue Hypermelanotic macule Delayed cranial suture closure Glucose intolerance Hypoplasia of teeth Narrow nasal ridge Hyperostosis Increased adipose tissue around the neck Foamy urine Progressive clavicular acroosteolysis Increased facial adipose tissue Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Thin clavicles Aplasia/Hypoplasia of the clavicles Generalized lipodystrophy Osteolytic defects of the distal phalanges of the hand Bird-like facies Mottled pigmentation Loss of subcutaneous adipose tissue in limbs Hematemesis Breast aplasia Wide cranial sutures Focal segmental glomerulosclerosis Hyperglycemia Short nose Paralysis Full cheeks Sepsis Short distal phalanx of finger Abnormality of skin pigmentation Hypotrichosis Nail dystrophy Sparse hair Postnatal growth retardation Abnormality of the skin Abnormality of the kidney Proptosis Narrow mouth Diabetes mellitus Osteoporosis Alopecia Hypospadias Dental malocclusion Convex nasal ridge Absent eyebrow Wormian bones Glomerulosclerosis Hyperinsulinemia Dermal atrophy Hyperlipidemia Atherosclerosis Acanthosis nigricans Internally nucleated skeletal muscle fibers Increased body weight Abnormality of the cardiovascular system Hyperpigmentation of the skin Insulin resistance Dental crowding Large fontanelles Thin skin Sparse scalp hair Epidermal acanthosis Nephrotic syndrome Muscle fiber hypertrophy Achilles tendon contracture Functional respiratory abnormality Respiratory arrest Abnormality on pulmonary function testing Abnormality of skeletal morphology Hamstring contractures Crackles Orthopnea Reduced vital capacity Abnormality of the rib cage Hyperhidrosis Cor pulmonale Thoracolumbar scoliosis Malignant hyperthermia Hypoventilation Hip contracture Gowers sign Nasal speech Cardiac conduction abnormality Protruding ear Abnormality of the cerebral white matter Recurrent lower respiratory tract infections Gait disturbance Wide nasal bridge Increased laxity of ankles Increased laxity of fingers Hyperextensibility at wrists Impaired mastication Abnormality of mitochondrial metabolism Camptodactyly of finger Cachexia Torticollis Lissencephaly Congenital hip dislocation EMG abnormality Pachygyria Growth hormone deficiency Ventricular hypertrophy Cough Obesity Intermittent episodes of respiratory insufficiency due to muscle weakness Congenital contracture Severe muscular hypotonia Dry skin Gastroesophageal reflux Delayed speech and language development Absent muscle fiber merosin Weakness of facial musculature Overweight Increased muscle lipid content Right ventricular failure Muscle fiber atrophy Microretrognathia Mitral valve prolapse Mandibular prognathia Joint hypermobility Weak cry Generalized joint laxity Apnea Open mouth Fever Hepatomegaly Myokymia Thoracic kyphosis Decreased muscle mass Easy fatigability Lumbar hyperlordosis Pes valgus Sensory impairment Long face Narrow chest Distal muscle weakness Dysphagia Abnormal elasticity of skin Gastrostomy tube feeding in infancy Midface retrusion Arrhythmia Generalized limb muscle atrophy Respiratory tract infection Webbed neck Single transverse palmar crease Pulmonary hypoplasia Ophthalmoplegia Dolichocephaly Prominent nasal bridge Polyhydramnios Cyanosis Micropenis Clinodactyly Short neck Downslanted palpebral fissures Low-set ears Cleft palate Hypertelorism Aciduria Hydrops fetalis Restricted neck movement due to contractures Severe postnatal growth retardation Increased nuchal translucency 3-Methylglutaconic aciduria Increased connective tissue Exercise-induced myalgia Fetal akinesia sequence Bell-shaped thorax Distal arthrogryposis External ophthalmoplegia Cystic hygroma Bilateral cryptorchidism Mask-like facies Akinesia Pterygium Tented upper lip vermilion Scrotal hypoplasia Absent muscle fiber emerin Decreased cervical spine flexion due to contractures of posterior cervical muscles Difficulty walking Atrial fibrillation Back pain Atrioventricular block Ventricular arrhythmia Reduced tendon reflexes Scapular winging Palpitations Myocardial infarction Myotonia Syncope Sudden cardiac death Vertigo Ichthyosis Lower limb muscle weakness Dilated cardiomyopathy Hypertrophic cardiomyopathy Spinal muscular atrophy Toe walking Proximal spinal muscular atrophy Atrial arrhythmia Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Ventricular escape rhythm Peroneal muscle weakness Left anterior fascicular block Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Increased LDL cholesterol concentration Calf muscle hypertrophy Abnormal atrioventricular conduction Supraventricular arrhythmia Proximal muscle weakness in lower limbs Limb-girdle muscle weakness Vocal cord paralysis Heart block Sprengel anomaly Stiff elbow



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