Cleft palate, and Myopathy

Diseases related with Cleft palate and Myopathy

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


Top matches:

Low match NEMALINE MYOPATHY 9; NEM9


Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Cleft palate
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 9; NEM9

Low match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

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

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Other less relevant matches:

Low match EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME


EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

Low match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

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 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME


Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Low match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

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

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

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Muscular dystrophy

Uncommon Symptoms - Between 30% and 50% cases


Areflexia Generalized muscle weakness Arthrogryposis multiplex congenita Facial palsy Neonatal hypotonia Low-set ears Talipes equinovarus Skeletal muscle atrophy Feeding difficulties Seizures Microcephaly Growth delay Intellectual disability Hyporeflexia Myopathic facies High palate Respiratory insufficiency Hypertelorism Cryptorchidism Agenesis of corpus callosum Coloboma Elevated serum creatine phosphokinase Cognitive impairment Congenital contracture Microphthalmia Intrauterine growth retardation Microcornea Kyphoscoliosis Proximal muscle weakness Talipes Decreased fetal movement Severe muscular hypotonia Iris coloboma Global developmental delay Muscular hypotonia Congenital muscular dystrophy Cardiomyopathy Micrognathia Ptosis

Rare Symptoms - Less than 30% cases


Hypotelorism Anophthalmia Cataract Short stature Hypoplasia of penis Bulbar palsy Poor head control Ventriculomegaly Downslanted palpebral fissures Pectus excavatum Dysphagia Hydrocephalus Short palpebral fissure Cerebellar vermis hypoplasia Specific learning disability Cleft upper lip EMG: myopathic abnormalities Cleft lip Abnormality of the foot Myopia Epicanthus Hearing impairment Tented upper lip vermilion Hydronephrosis Peters anomaly Duodenal atresia Optic nerve hypoplasia Waddling gait Cerebellar hypoplasia Cleft soft palate Pes planus Fever Hip dislocation Centrally nucleated skeletal muscle fibers Difficulty climbing stairs Mitochondrial depletion Fetal akinesia sequence Akinesia Spinal rigidity Malignant hyperthermia Difficulty running Minicore myopathy Increased endomysial connective tissue Nemaline bodies Abnormal levels of creatine kinase in blood Type 1 muscle fiber predominance Distal muscle weakness Ventricular septal defect Ankle contracture Polyhydramnios Hand clenching Glaucoma Multiple pterygia Neck flexor weakness Abnormality of the rib cage Proptosis Inability to walk Protruding ear Retinal dystrophy Encephalocele Slender build Intellectual disability, profound Dandy-Walker malformation Bifid uvula Retinal detachment Polymicrogyria Retinopathy Oral cleft Anal atresia Congenital cataract Posteriorly rotated ears Corneal opacity Microtia Abnormality of the cerebral white matter Optic atrophy Dilatation Cyclopia Precocious puberty Narrow nasal bridge Transient myeloproliferative syndrome Hamartoma Median cleft lip Maternal diabetes Abnormality of chromosome segregation Hyposmia Panhypopituitarism Nasal obstruction Single median maxillary incisor Abnormality of the nasopharynx Semilobar holoprosencephaly Blindness Hypothalamic hamartoma Torus palatinus Single naris Prominent median palatal raphe Severe hydrops fetalis Calf muscle pseudohypertrophy Pyriform aperture stenosis Midnasal stenosis Macrocephaly Pachygyria Frontal bossing Hypoplasia of the corpus callosum Intellectual disability, severe EMG: neuropathic changes Absent septum pellucidum Heterotopia Hydrops fetalis Metatarsus valgus Severe hydrocephalus Macrogyria Rocker bottom foot Abnormal lactate dehydrogenase activity Pterygium Adducted thumb Respiratory insufficiency due to muscle weakness Foot dorsiflexor weakness Chorioretinal dysplasia Hypoplastic male external genitalia Aplasia/Hypoplasia involving the skeletal musculature Thick cerebral cortex Hypoglycosylation of alpha-dystroglycan Abnormal aldolase level Dysarthria Edema Long philtrum Hypospadias Micropenis Apnea Abnormality of the eye Hyperlordosis Limb muscle weakness Large fontanelles Frequent falls Abnormality of the cerebellar vermis Meningoencephalocele Cystic hygroma Megalocornea Renal dysplasia Lissencephaly Atresia of the external auditory canal Hypoplasia of the brainstem Abnormality of neuronal migration Congenital glaucoma Falls Occipital encephalocele Pericardial effusion Mildly elevated creatine phosphokinase Submucous cleft hard palate Retinal atrophy Bilateral cleft lip Posterior fossa cyst Retinal dysplasia Abnormal cortical gyration Abnormality of the optic nerve Buphthalmos Aqueductal stenosis Muscle fiber splitting Cerebellar dysplasia Type II lissencephaly Cerebellar cyst Agyria Multiple joint contractures Excessive daytime sleepiness Remnants of the hyaloid vascular system Anosmia Bladder diverticulum Hemangioma Prominent nasal bridge Recurrent pneumonia Nasal speech Restrictive ventilatory defect Long fingers Increased connective tissue Diaphragmatic paralysis Respiratory arrest Wide nasal bridge Polydactyly Deeply set eye Abnormality of the pinna Wide mouth Malabsorption Paralysis Astigmatism Intestinal malrotation Prominent nose Renal hypoplasia Preaxial polydactyly Short columella Sclerocornea Ectopia pupillae Sex reversal Intestinal atresia Accessory spleen Retinal vascular tortuosity Camptodactyly of finger Respiratory tract infection Hypoplastic iris stroma Left ventricular noncompaction Narrow chest Breech presentation Progressive distal muscle weakness Atrial septal defect Congestive heart failure Arrhythmia Abnormal cardiac septum morphology Dilated cardiomyopathy Webbed neck Knee flexion contracture Radioulnar synostosis Calf muscle hypertrophy Fatigue Gastroesophageal reflux Hypertrophic cardiomyopathy Muscle cramps Congenital hip dislocation Limb-girdle muscular dystrophy Ophthalmoparesis Skeletal myopathy Generalized limb muscle atrophy Stooped posture Failure to thrive Respiratory distress Encephalopathy Respiratory failure Bilateral renal hypoplasia Jejunal atresia Holoprosencephaly Intellectual disability, mild Conductive hearing impairment Telecanthus Blepharophimosis Long face Downturned corners of mouth Narrow forehead Open mouth Gowers sign Restrictive deficit on pulmonary function testing Multiple skeletal anomalies Strabismus Anteverted nares Short nose Midface retrusion Severe short stature Hypothyroidism Short philtrum Asthma Ectodermal dysplasia Premature birth Growth hormone deficiency Renal agenesis Tetralogy of Fallot Ambiguous genitalia Depressed nasal ridge Choanal atresia Brachycephaly Kyphosis Corneal astigmatism Blue sclerae Sensorineural hearing impairment Gait disturbance Hernia Patent ductus arteriosus Inguinal hernia Hyperkeratosis Osteopenia Umbilical hernia Scarring Joint hypermobility Bruising susceptibility Sloping forehead Cutis laxa Abnormality of the skeletal system Easy fatigability Hyperextensible skin Poor suck Increased susceptibility to fractures Disproportionate tall stature Atrophic scars Soft skin Follicular hyperkeratosis Keloids High-frequency sensorineural hearing impairment Arterial rupture Abnormal eye morphology Aortic rupture Late-onset distal muscle weakness



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Dilated cardiomyopathy, related diseases and genetic alterations Obesity and Abnormality of skin pigmentation, related diseases and genetic alterations Obesity and Umbilical hernia, related diseases and genetic alterations Spasticity and Headache, related diseases and genetic alterations

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