Abnormal facial shape, and Congenital muscular dystrophy

Diseases related with Abnormal facial shape and Congenital muscular dystrophy

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


Top matches:

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 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

Medium match AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY


Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

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Other less relevant matches:

Medium match CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1


Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

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 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

Medium 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

Low match GLYCEROL KINASE DEFICIENCY; GKD


Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C


Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type|dmda|lgmd2c|muscular dystrophy, limb-girdle, type 2c|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|duchenne-like muscular dystrophy, autosomal recessive, type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C

Low match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Congenital muscular dystrophy

Symptoms // Phenotype % cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Flexion contracture Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Congenital muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Kyphosis

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Intellectual disability Growth delay High palate Skeletal muscle atrophy Elevated serum creatine phosphokinase Muscle fiber necrosis Kyphoscoliosis Short stature Limb-girdle muscular dystrophy Increased variability in muscle fiber diameter Facial palsy Respiratory insufficiency Centrally nucleated skeletal muscle fibers Rigidity Spinal rigidity Myopathic facies Ptosis Difficulty climbing stairs Difficulty running Seizures Areflexia Hyperlipidemia Hypertonia Hyperlordosis Joint stiffness Respiratory failure Failure to thrive EMG: myopathic abnormalities Pneumonia Global developmental delay Waddling gait Motor delay Arthrogryposis multiplex congenita Hearing impairment Osteoporosis Generalized muscle weakness Hypertriglyceridemia Cryptorchidism Micrognathia Lumbar hyperlordosis Cataract Progressive muscle weakness

Rare Symptoms - Less than 30% cases


Ataxia Strabismus Limb muscle weakness Progressive proximal muscle weakness Hypertelorism Hyporeflexia Peripheral neuropathy Arrhythmia Dysarthria Gait disturbance Insulin resistance Type 1 muscle fiber predominance Coxa valga Hypertension Achilles tendon contracture Low-set ears Type 1 muscle fiber atrophy Congenital cataract Prominent nasal bridge Neurodegeneration Deeply set eye Cerebellar hypoplasia Intellectual disability, severe Nystagmus Microcephaly Limb-girdle muscle atrophy Elbow flexion contracture Calf muscle hypertrophy Increased connective tissue Shoulder girdle muscle weakness Progeroid facial appearance Rimmed vacuoles Restrictive ventilatory defect Edema Lipodystrophy Scapular winging Ankle contracture Abnormality of the skeletal system Generalized amyotrophy Hip dislocation Shoulder girdle muscle atrophy Talipes equinovarus Pain Long face Slender build Decreased fetal movement Hyperkeratosis Distal lower limb amyotrophy Neonatal hypotonia Joint laxity Pectus carinatum Feeding difficulties in infancy Nemaline bodies Facial diplegia Scarring Round face Muscle stiffness Dysphagia Respiratory distress Congestive heart failure Respiratory insufficiency due to muscle weakness Pectus excavatum Pes planus Knee flexion contracture Dysphonia Narrow face Frequent falls Diabetes mellitus Retrognathia Feeding difficulties Abnormal levels of creatine kinase in blood Reduced subcutaneous adipose tissue Hypermelanotic macule Delayed cranial suture closure Abnormality of the cerebellar vermis High pitched voice Prematurely aged appearance Arthropathy Down-sloping shoulders Short clavicles Prominent superficial veins Breast aplasia Wide cranial sutures Generalized lipodystrophy Narrow nasal ridge Broad distal phalanx of finger Hypoplasia of teeth Mild global developmental delay Calcinosis Premature loss of teeth Avascular necrosis of the capital femoral epiphysis Vertebral compression fractures Osteolytic defects of the phalanges of the hand Focal segmental glomerulosclerosis Autophagic vacuoles Narrow nose Insulin-resistant diabetes mellitus Muscle flaccidity Glucose intolerance Dermal atrophy Metatarsus valgus Proptosis Abnormality of the skin Dental malocclusion Full cheeks Abnormality of the dentition Short nose Hypospadias Alopecia Narrow mouth Abnormality of the kidney Abnormality of the cardiovascular system Sepsis Short distal phalanx of finger Loss of subcutaneous adipose tissue in limbs Abnormality of skin pigmentation Postnatal growth retardation Paralysis Delayed puberty Hypotrichosis Sparse hair Convex nasal ridge Nephrotic syndrome Hyperostosis Acanthosis nigricans Hyperglycemia Absent eyebrow Cerebellar cortical atrophy Glomerulosclerosis Abnormal lactate dehydrogenase activity Hyperinsulinemia Nail dystrophy Aplasia/Hypoplasia involving the skeletal musculature Atherosclerosis Osteolysis Epidermal acanthosis Abnormal aldolase level Wormian bones Neoplasm Increased body weight Hyperpigmentation of the skin Dental crowding Large fontanelles Thin skin Sparse scalp hair Hematemesis Macroglossia Mottled pigmentation Facial asymmetry Aspiration Fasciculations Gynecomastia Intention tremor Type II diabetes mellitus Abnormal cerebellum morphology Muscle cramps Sensory neuropathy Infertility Amyotrophic lateral sclerosis Myalgia Difficulty walking Tremor Reduced muscle fiber alpha sarcoglycan Absent muscle fiber gamma sarcoglycan EMG: myotonic discharges EMG: positive sharp waves EMG: myotonic runs Abnormal macrophage morphology Spinal muscular atrophy Impotence Increased endomysial connective tissue Kinetic tremor Laryngospasm Erectile abnormalities Exercise-induced muscle cramps Motor neuron atrophy Limb tremor Tongue atrophy Decreased LDL cholesterol concentration Hyperlipoproteinemia Testicular atrophy Oligospermia Decreased fertility Bulbar signs Aspiration pneumonia Hand tremor Abnormality of the mouth Overweight Abnormality of lipid metabolism Axonal loss Muscle fibrillation Bulbar palsy Left ventricular systolic dysfunction Right ventricular dilatation Bird-like facies Stiff elbow Coma Metabolic acidosis Downturned corners of mouth Lethargy Small for gestational age Hypoglycemia Acidosis Vomiting Frontal bossing Foamy urine Loss of consciousness Progressive clavicular acroosteolysis Increased facial adipose tissue Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Thin clavicles Increased adipose tissue around the neck Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Adrenal insufficiency Pathologic fracture Calf muscle pseudohypertrophy Broad-based gait Tip-toe gait Muscle fiber atrophy Neck flexor weakness Restrictive deficit on pulmonary function testing Left ventricular failure Upper limb muscle weakness Right ventricular hypertrophy Skeletal muscle hypertrophy Gowers sign External genital hypoplasia Ketoacidosis Inability to walk Unsteady gait Cardiomyopathy Hyperglycerolemia Increased urinary glycerol Adrenocortical hypoplasia Congenital adrenal hypoplasia Episodic vomiting Adrenal hypoplasia Abnormality of finger Distal arthrogryposis Cubitus valgus Hyporeflexia of lower limbs Ventricular escape rhythm Permanent atrial fibrillation Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Increased LDL cholesterol concentration Supraventricular arrhythmia Pelvic girdle muscle weakness Proximal muscle weakness in lower limbs Decreased HDL cholesterol concentration Pelvic girdle muscle atrophy Limb-girdle muscle weakness Sprengel anomaly Toe walking Myotonia Back pain Atrioventricular block Reduced tendon reflexes Diplopia Proximal upper limb amyotrophy Absent muscle fiber emerin Palpitations Muscular hypotonia of the trunk Wide intermamillary distance Prominent nose Delayed myelination Gliosis Hirsutism Thin vermilion border Blepharophimosis Camptodactyly Macrotia Decreased cervical spine flexion due to contractures of posterior cervical muscles Agenesis of corpus callosum Microphthalmia Long philtrum Hypoplasia of the corpus callosum Ventriculomegaly Hyperreflexia Sensorineural hearing impairment Restricted neck movement due to contractures Abnormal lung morphology Atrial fibrillation Peripheral demyelination Neck muscle weakness Pachygyria Growth hormone deficiency Camptodactyly of finger Protruding ear Hyperhidrosis Myokymia Distal lower limb muscle weakness Thoracic kyphosis Decreased muscle mass Congenital hip dislocation Easy fatigability Open mouth Sensory impairment Falls Narrow chest Distal muscle weakness Dyspnea Pes cavus EMG abnormality Lissencephaly Sudden cardiac death Hyperextensibility at wrists Vertigo Ichthyosis Paresthesia Lower limb muscle weakness Dilated cardiomyopathy Obesity Increased laxity of ankles Increased laxity of fingers Impaired mastication Torticollis Nocturnal hypoventilation Follicular hyperkeratosis Proximal amyotrophy Recurrent lower respiratory tract infections Mildly elevated creatine phosphokinase Multiple joint contractures Abnormality of mitochondrial metabolism Cachexia Neuronal loss in central nervous system Cerebral calcification Short metatarsal Epicanthus Cerebral cortical atrophy Hypogonadism Severe short stature Recurrent infections Cerebral atrophy Cerebellar atrophy Optic atrophy Brachydactyly Spasticity Intellectual disability, moderate Type 1 and type 2 muscle fiber minicore regions Abnormal muscle morphology Sternocleidomastoid amyotrophy Frog-leg posture Tibialis atrophy Rectus femoris muscle atrophy Muscle fiber hypertrophy Internally nucleated skeletal muscle fibers Gait ataxia Neurological speech impairment Functional respiratory abnormality Hypertrichosis Abnormality of the metacarpal bones Infantile muscular hypotonia Sandal gap Type I diabetes mellitus Hypergonadotropic hypogonadism Sensorimotor neuropathy Short thumb Limb ataxia Specific learning disability Synophrys Hip dysplasia Decreased antibody level in blood Short metacarpal Progressive cerebellar ataxia Microcornea Dyskinesia Short palm Smooth philtrum Minicore myopathy Generalized limb muscle atrophy Sloping forehead Second metatarsal posteriorly placed Respiratory tract infection Polyhydramnios Micropenis Recurrent respiratory infections Clinodactyly Short neck Downslanted palpebral fissures Cleft palate Deep longitudinal plantar crease Ophthalmoplegia Long ear Miosis Osteopetrosis Abnormality of the ear Rocker bottom foot Joint contracture of the hand Cutaneous photosensitivity Intellectual disability, profound Dolichocephaly Pulmonary hypoplasia Increased nuchal translucency Mask-like facies 3-Methylglutaconic aciduria Axial muscle weakness Exercise-induced myalgia Fetal akinesia sequence Bell-shaped thorax Severe postnatal growth retardation Cystic hygroma Bilateral cryptorchidism Akinesia Single transverse palmar crease Pterygium Tented upper lip vermilion Scrotal hypoplasia External ophthalmoplegia Bradycardia Hydrops fetalis Cyanosis Aciduria Webbed neck Proximal spinal muscular atrophy



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