Cleft palate, and Congenital muscular dystrophy

Diseases related with Cleft palate and Congenital muscular dystrophy

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


Top matches:

Medium 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

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

Medium 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

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Other less relevant matches:

Medium 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

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

Medium 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

Medium 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

Medium 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

Medium 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

Medium 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

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

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Scoliosis Very Common - Between 80% and 100% cases
Flexion contracture Very Common - Between 80% and 100% cases
Muscular dystrophy 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 Cleft palate and Congenital muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Motor delay

Uncommon Symptoms - Between 30% and 50% cases


Myopathy

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Respiratory insufficiency Muscular hypotonia Facial palsy Neonatal hypotonia Elevated serum creatine phosphokinase Centrally nucleated skeletal muscle fibers Congestive heart failure Respiratory failure Arthrogryposis multiplex congenita Generalized muscle weakness Poor head control Severe muscular hypotonia Minicore myopathy Skeletal muscle atrophy Increased variability in muscle fiber diameter Spinal rigidity Myopia Abnormality of the cerebral white matter Congenital contracture Cryptorchidism Kyphoscoliosis Pes planus Global developmental delay Neck muscle weakness Areflexia Axial muscle weakness Proximal muscle weakness Growth delay Waddling gait Myopathic facies Difficulty climbing stairs Difficulty running Cardiomyopathy Hypertelorism

Rare Symptoms - Less than 30% cases


Knee flexion contracture Intellectual disability Pectus excavatum Limb muscle weakness Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Hyporeflexia Low-set ears Follicular hyperkeratosis Joint hypermobility Hyperkeratosis Limited neck flexion Hyperlordosis Easy fatigability Webbed neck Narrow face Microcornea Progressive muscle weakness Seizures Restrictive deficit on pulmonary function testing Nocturnal hypoventilation Feeding difficulties Joint laxity Ptosis Recurrent respiratory infections Pneumonia Kyphosis Edema Respiratory distress Facial diplegia Nemaline bodies Right ventricular hypertrophy Muscle fiber necrosis Type 1 and type 2 muscle fiber minicore regions Delayed gross motor development Short stature Failure to thrive Multiple joint contractures High pitched voice Generalized amyotrophy Talipes equinovarus Decreased fetal movement Cleft upper lip Peters anomaly Hypoplasia of the brainstem Lissencephaly Congenital cataract Dilatation Congenital glaucoma Microphthalmia Intellectual disability, severe Hydrocephalus Ventriculomegaly Retinal atrophy Abnormal levels of creatine kinase in blood Heterotopia Pachygyria Buphthalmos Cataract Cerebellar dysplasia Encephalocele Polymicrogyria Intellectual disability, profound Cerebellar vermis hypoplasia Type II lissencephaly Microcephaly Cerebellar hypoplasia Cleft lip Cerebellar cyst Glaucoma Cleft soft palate Hip contracture Internally nucleated skeletal muscle fibers Muscle fiber hypertrophy Rectus femoris muscle atrophy Tibialis atrophy Microretrognathia Frog-leg posture Mitral valve prolapse Hip dysplasia Type 1 muscle fiber atrophy Abnormal muscle morphology Sternocleidomastoid amyotrophy Hamstring contractures Mandibular prognathia Hepatomegaly Functional respiratory abnormality Distal arthrogryposis External ophthalmoplegia Scrotal hypoplasia Tented upper lip vermilion Pterygium Akinesia Mask-like facies Bilateral cryptorchidism Cystic hygroma Malignant hyperthermia Thoracolumbar scoliosis Severe postnatal growth retardation Generalized limb muscle atrophy Abnormality on pulmonary function testing Hypoventilation Bell-shaped thorax Cor pulmonale Fetal akinesia sequence Shoulder girdle muscle weakness Exercise-induced myalgia Increased connective tissue Abnormality of skeletal morphology 3-Methylglutaconic aciduria Increased nuchal translucency Type 1 muscle fiber predominance Increased muscle lipid content Gowers sign Muscle stiffness Distal muscle weakness Pectus carinatum Narrow chest Long face Falls Cough Sensory impairment Lumbar hyperlordosis Open mouth Frequent falls Decreased muscle mass Retrognathia Thoracic kyphosis Distal lower limb amyotrophy Reduced vital capacity Apnea Distal lower limb muscle weakness Slender build Myokymia Rigidity Shoulder girdle muscle atrophy Respiratory arrest Hypertension Ventricular hypertrophy Dyspnea Muscle fiber atrophy Mildly elevated creatine phosphokinase Right ventricular failure Fever Weakness of facial musculature Intermittent episodes of respiratory insufficiency due to muscle weakness Absent muscle fiber merosin Delayed speech and language development Gastroesophageal reflux Delayed puberty Dry skin Abnormality of the rib cage Nasal speech Pes cavus Crackles Weak cry Orthopnea Overweight Generalized joint laxity Pes valgus Gastrostomy tube feeding in infancy Peroneal muscle atrophy Elbow flexion contracture Dysphagia Hypertonia Abnormal elasticity of skin Aqueductal stenosis Bradycardia Bladder diverticulum Abnormality of the foot Bruising susceptibility Sloping forehead Hypotelorism Blue sclerae Cutis laxa Hyperextensible skin Poor suck Increased susceptibility to fractures Disproportionate tall stature Atrophic scars Soft skin Keloids Umbilical hernia High-frequency sensorineural hearing impairment Arterial rupture Abnormal eye morphology Aortic rupture Intrauterine growth retardation Macrocephaly Optic atrophy Frontal bossing Hypoplasia of the corpus callosum Blindness Agenesis of corpus callosum Posteriorly rotated ears Scarring Osteopenia Hydronephrosis Visual impairment Ventricular septal defect Atrial septal defect Arrhythmia Abnormal cardiac septum morphology Hip dislocation Dilated cardiomyopathy Radioulnar synostosis Calf muscle hypertrophy Ankle contracture Left ventricular noncompaction Increased endomysial connective tissue Mitochondrial depletion Hypermetropia Inguinal hernia Macroglossia Aplasia/Hypoplasia of the corpus callosum Skeletal muscle hypertrophy Abnormality of the periventricular white matter Hypoplasia of the pons Persistent pupillary membrane Moderate myopia Hearing impairment Sensorineural hearing impairment Epicanthus Gait disturbance Hernia Patent ductus arteriosus Proptosis Protruding ear Hydrops fetalis Downslanted palpebral fissures Hypoglycosylation of alpha-dystroglycan Abnormality of the cerebellar vermis Metatarsus valgus Severe hydrocephalus Macrogyria Abnormal lactate dehydrogenase activity Chorioretinal dysplasia Hypoplastic male external genitalia Aplasia/Hypoplasia involving the skeletal musculature Thick cerebral cortex Abnormal aldolase level Abnormal facial shape Short neck Posterior fossa cyst Clinodactyly Micropenis Polyhydramnios Feeding difficulties in infancy Respiratory tract infection Prominent nasal bridge Dolichocephaly Ophthalmoplegia Pulmonary hypoplasia Single transverse palmar crease Aciduria Cyanosis Meningoencephalocele Remnants of the hyaloid vascular system Coloboma Renal dysplasia Retinopathy Microtia Corneal opacity Anal atresia Oral cleft Iris coloboma Retinal dystrophy Retinal detachment Bifid uvula Dandy-Walker malformation Specific learning disability Hypoplasia of penis Optic nerve hypoplasia Excessive daytime sleepiness Atresia of the external auditory canal Anophthalmia Abnormality of neuronal migration Absent septum pellucidum Occipital encephalocele Submucous cleft hard palate Megalocornea Bilateral cleft lip Retinal dysplasia Abnormal cortical gyration Abnormality of the optic nerve Muscle fiber splitting Agyria Cardiac conduction abnormality



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