Cleft palate, and Proximal muscle weakness

Diseases related with Cleft palate and Proximal muscle weakness

In the following list you will find some of the most common rare diseases related to Cleft palate and Proximal muscle weakness 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 NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Low match NEMALINE MYOPATHY 2; NEM2


Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

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Other less relevant matches:

Low 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 MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8


Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by Maselli et al., 2012).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8 Is also known as cmsppd|myasthenic syndrome, congenital, due to agrin deficiency|myasthenic syndrome, congenital, with pre- and postsynaptic defects

Related symptoms:

  • Muscle weakness
  • Ptosis
  • High palate
  • Respiratory insufficiency
  • Dyspnea


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8

Low match L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY


L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

Low match DISTAL NEBULIN MYOPATHY


Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.

DISTAL NEBULIN MYOPATHY Is also known as nebulin-related early-onset distal myopathy

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DISTAL NEBULIN MYOPATHY

Low match NEMALINE MYOPATHY 7; NEM7


Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • High palate
  • Motor delay


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 7; NEM7

Low match MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB


MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB Is also known as myopathy, hyaline body, autosomal recessive

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • High palate
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

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

Top 5 symptoms//phenotypes associated to Cleft palate and Proximal muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
High palate Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Facial palsy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Proximal muscle weakness. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Motor delay

Uncommon Symptoms - Between 30% and 50% cases


Myopathic facies Type 1 muscle fiber predominance Areflexia Generalized muscle weakness Nemaline bodies Kyphoscoliosis Arthrogryposis multiplex congenita Skeletal muscle atrophy Feeding difficulties Flexion contracture Cryptorchidism Decreased fetal movement Low-set ears Elevated serum creatine phosphokinase Minicore myopathy Gowers sign Downslanted palpebral fissures Centrally nucleated skeletal muscle fibers Mildly elevated creatine phosphokinase Ptosis Polyhydramnios Neonatal hypotonia Talipes Cardiomyopathy Muscular dystrophy Talipes equinovarus Cognitive impairment

Rare Symptoms - Less than 30% cases


Edema Hypertelorism Pterygium Foot dorsiflexor weakness Akinesia Micropenis Congenital contracture Tented upper lip vermilion Gait disturbance Long face Global developmental delay Lower limb muscle weakness Pes cavus Progressive muscle weakness Cystic hygroma Distal muscle weakness Limb muscle weakness Falls EMG: myopathic abnormalities Fetal akinesia sequence Respiratory insufficiency due to muscle weakness Waddling gait Frequent falls EMG: neuropathic changes Hydrops fetalis Muscular hypotonia Seizures Neck muscle weakness Dilated cardiomyopathy Generalized limb muscle atrophy Growth delay Malignant hyperthermia Spinal rigidity Respiratory failure Short stature Difficulty running Aciduria Hypertrophic cardiomyopathy Pes planus Kyphosis Fever Hyporeflexia Intellectual disability Distal arthrogryposis Severe postnatal growth retardation Bell-shaped thorax Increased variability in muscle fiber diameter Bilateral cryptorchidism Facial diplegia Shoulder girdle muscle weakness Narrow chest Exercise-induced myalgia 3-Methylglutaconic aciduria Type 1 muscle fiber atrophy Muscle fiber necrosis Increased nuchal translucency Internally nucleated skeletal muscle fibers Muscle fiber hypertrophy Rectus femoris muscle atrophy Tibialis atrophy Increased connective tissue Frog-leg posture Sternocleidomastoid amyotrophy Axial muscle weakness Abnormal muscle morphology Type 1 and type 2 muscle fiber minicore regions Dyspnea Functional respiratory abnormality Diplopia Abnormality of creatine metabolism Easy fatigability Myalgia Scapular winging Reduced vital capacity Scapuloperoneal amyotrophy Civatte bodies Scapuloperoneal weakness Tremor Ragged-red muscle fibers Myofibrillar myopathy Calf muscle hypertrophy Rimmed vacuoles Abnormality of the mitochondrion Left atrial enlargement Weakness of long finger extensor muscles Amyotrophy of ankle musculature Congestive heart failure Delayed gross motor development Type 2 muscle fiber atrophy Infantile muscular hypotonia Failure to thrive Delayed speech and language development Intellectual disability, severe Behavioral abnormality Autism Autistic behavior Failure to thrive in infancy Joint hypermobility Language impairment Decreased muscle mass Long fingers Progressive proximal muscle weakness Organic aciduria Congenital muscular dystrophy Difficulty walking Mask-like facies Bulbar palsy Scrotal hypoplasia Open mouth Telecanthus Blepharophimosis Abnormality of the foot Downturned corners of mouth Narrow forehead Short palpebral fissure Ankle contracture Brachycephaly Restrictive deficit on pulmonary function testing Multiple skeletal anomalies Dysarthria Dysphagia Long philtrum Hypospadias Conductive hearing impairment Pectus excavatum Abnormality of the eye Ophthalmoparesis Intrauterine growth retardation Fatigue Hip dislocation Muscle cramps Congenital hip dislocation Limb-girdle muscular dystrophy Skeletal myopathy Midface retrusion Stooped posture Hearing impairment Microcephaly Micrognathia Epicanthus Abnormality of the skeletal system Ventriculomegaly Apnea Hyperlordosis External ophthalmoplegia Dolichocephaly Pneumonia Recurrent respiratory infections Joint laxity Feeding difficulties in infancy Respiratory tract infection Prominent nasal bridge Ophthalmoplegia Respiratory distress Pulmonary hypoplasia Single transverse palmar crease Webbed neck Cyanosis Bradycardia Narrow face Clinodactyly Short neck Inability to walk Abnormality of the rib cage Large fontanelles Adducted thumb Rocker bottom foot Multiple joint contractures Pericardial effusion Slender build Neck flexor weakness Abnormal facial shape Hand clenching Multiple pterygia Calf muscle pseudohypertrophy Severe hydrops fetalis Transient myeloproliferative syndrome Mitochondrial depletion Late-onset distal muscle weakness Toe extensor amyotrophy



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 Umbilical hernia, related diseases and genetic alterations Wide nasal bridge and Recurrent fractures, related diseases and genetic alterations Delayed speech and language development and Hypospadias, related diseases and genetic alterations Strabismus and Blindness, related diseases and genetic alterations

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