Abnormal facial shape, and Muscular dystrophy

Diseases related with Abnormal facial shape and Muscular dystrophy

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


Top matches:

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 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

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Other less relevant matches:

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

Low match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Low 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

Low 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

Low match MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD


Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Low match MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1


Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Low 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

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

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

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Generalized hypotonia Muscular hypotonia Growth delay Kyphosis Lumbar hyperlordosis Respiratory insufficiency Elevated serum creatine phosphokinase Global developmental delay Facial palsy Congenital muscular dystrophy Hyperlordosis Waddling gait Skeletal muscle atrophy Limb-girdle muscular dystrophy Limb muscle weakness High palate Pectus excavatum Difficulty climbing stairs Failure to thrive Decreased fetal movement Arrhythmia Difficulty running Increased variability in muscle fiber diameter Dysphagia EMG: myopathic abnormalities Hypertonia Generalized muscle weakness Long face Arthrogryposis multiplex congenita Respiratory failure Progressive muscle weakness Short stature Respiratory insufficiency due to muscle weakness Ptosis Seizures Kyphoscoliosis Low-set ears

Rare Symptoms - Less than 30% cases


Myotonia Hirsutism Bulbar palsy Muscular hypotonia of the trunk Muscle cramps Neurodegeneration Motor delay Hearing impairment Sensorineural hearing impairment Hyperhidrosis Insulin resistance Gait disturbance Myalgia Areflexia Pes cavus Shoulder girdle muscle atrophy Slender build Distal lower limb amyotrophy Pectus carinatum Nemaline bodies Thoracic kyphosis Centrally nucleated skeletal muscle fibers Myopathic facies Growth hormone deficiency Knee flexion contracture Narrow face Muscle fiber necrosis Feeding difficulties Rigidity Generalized amyotrophy Cardiomyopathy Congenital hip dislocation Lower limb muscle weakness Congenital adrenal hypoplasia Dilated cardiomyopathy Multiple joint contractures Adrenal insufficiency Hyperlipidemia Hypertriglyceridemia Metabolic acidosis Pneumonia Spinal rigidity Ankle contracture Micrognathia Acidosis Diabetes mellitus Osteoporosis Frontal bossing Strabismus Hypertelorism Congestive heart failure Adrenal hypoplasia Atrial fibrillation Joint laxity Calf muscle hypertrophy Neonatal hypotonia Joint stiffness Progressive proximal muscle weakness Achilles tendon contracture Elbow flexion contracture Restrictive ventilatory defect Frequent falls Scapular winging Back pain Lipodystrophy Shoulder girdle muscle weakness Toe walking Decreased cervical spine flexion due to contractures of posterior cervical muscles Absent muscle fiber emerin Restricted neck movement due to contractures Ophthalmoplegia Abnormal glucose tolerance Osteopenia Increased laxity of ankles Diplopia Atrioventricular block Clumsiness Infantile muscular hypotonia Hyperinsulinemia Hyperglycemia Glucose intolerance Glycosuria Weak cry Insulin-resistant diabetes mellitus Rimmed vacuoles Permanent atrial fibrillation Pelvic girdle muscle atrophy Abnormal lung morphology Decreased HDL cholesterol concentration Sudden cardiac death Vertigo Increased connective tissue Hyporeflexia of lower limbs Ichthyosis Progeroid facial appearance Proximal muscle weakness in lower limbs Pelvic girdle muscle weakness Paresthesia Palpitations Sprengel anomaly Type 1 muscle fiber atrophy Reduced tendon reflexes Supraventricular arrhythmia Obesity Increased LDL cholesterol concentration Proximal lower limb amyotrophy Hypertension Proximal muscle weakness in upper limbs Limb-girdle muscle atrophy Limb-girdle muscle weakness Ventricular escape rhythm Proximal upper limb amyotrophy Limb joint contracture Scaphocephaly Spinal deformities Cerebellar hypoplasia Prominent nasal bridge Blepharophimosis Camptodactyly Deeply set eye Macrotia Agenesis of corpus callosum Microphthalmia Thin vermilion border Long philtrum Intellectual disability, severe Hypoplasia of the corpus callosum Ventriculomegaly Hyperreflexia Cataract Nystagmus Congenital cataract Gliosis Mixed respiratory and metabolic acidosis Joint contracture of the hand Deep longitudinal plantar crease Long ear Miosis Osteopetrosis Abnormality of the ear Rocker bottom foot Coxa valga Cutaneous photosensitivity Delayed myelination Intellectual disability, profound Sloping forehead Cerebral calcification Peripheral demyelination Neuronal loss in central nervous system Wide intermamillary distance Prominent nose Microcephaly Sinus tachycardia Postprandial hyperglycemia Stroke Lymphedema Hypotension Webbed neck Abnormal bleeding Joint hypermobility Tachycardia Lactic acidosis Midface retrusion Tachypnea Dilatation Malar flattening Renal insufficiency Downslanted palpebral fissures Fever Epicanthus Type 1 fibers relatively smaller than type 2 fibers Shock Ventricular arrhythmia Long upper lip Malignant hyperthermia Congenital ptosis Diaphragmatic eventration Respiratory arrest Severe lactic acidosis Breech presentation Hyperphosphatemia Low hanging columella Myoglobinuria Deep philtrum Hyperextensibility at wrists Acute kidney injury Rhabdomyolysis Abnormality of the sternum Hyperkalemia Abnormality of the coagulation cascade Ventricular fibrillation Increased laxity of fingers Respiratory tract infection Impaired mastication Distal lower limb muscle weakness Respiratory distress Dyspnea Retrognathia Pes planus Distal muscle weakness Narrow chest Falls Sensory impairment Open mouth Muscle stiffness Easy fatigability Decreased muscle mass Neck muscle weakness Facial diplegia Myokymia Absent muscle fiber gamma sarcoglycan Facial asymmetry Fasciculations Gynecomastia Intention tremor Type II diabetes mellitus Abnormal cerebellum morphology Sensory neuropathy Infertility Ataxia Difficulty walking Hyporeflexia Tremor Dysarthria Peripheral neuropathy Pain Reduced muscle fiber alpha sarcoglycan EMG: myotonic discharges Dysphonia Pathologic fracture Unsteady gait Hyperglycerolemia Increased urinary glycerol Adrenocortical hypoplasia Episodic vomiting Ketoacidosis Loss of consciousness Macroglossia Coma Downturned corners of mouth Lethargy Small for gestational age Hypoglycemia Vomiting Inability to walk Broad-based gait EMG: positive sharp waves Tip-toe gait EMG: myotonic runs Abnormal macrophage morphology Left ventricular systolic dysfunction Increased endomysial connective tissue Right ventricular dilatation Calf muscle pseudohypertrophy Muscle fiber atrophy Gowers sign Neck flexor weakness Restrictive deficit on pulmonary function testing Left ventricular failure Upper limb muscle weakness Right ventricular hypertrophy Skeletal muscle hypertrophy Aspiration Spinal muscular atrophy Nocturnal hypoventilation Feeding difficulties in infancy Bilateral sensorineural hearing impairment Abnormality of the genital system Hypocalcemia Nephrocalcinosis Short long bone Hypercalciuria Hypercalcemia Epiphyseal dysplasia Bilateral cryptorchidism Metaphyseal dysplasia Primary adrenal insufficiency Metaphyseal cupping Talipes equinovarus Hyperkeratosis Protruding ear Craniosynostosis Cachexia Type 1 muscle fiber predominance Follicular hyperkeratosis Proximal amyotrophy Recurrent lower respiratory tract infections Mildly elevated creatine phosphokinase Abnormality of mitochondrial metabolism Torticollis Scarring Lissencephaly EMG abnormality Pachygyria Round face Hip dislocation Camptodactyly of finger Micromelia Postnatal growth retardation Amyotrophic lateral sclerosis Hand tremor Hyperlipoproteinemia Testicular atrophy Kinetic tremor Oligospermia Bulbar signs Aspiration pneumonia Abnormality of the mouth Tongue atrophy Overweight Abnormality of lipid metabolism Axonal loss Muscle fibrillation Decreased fertility Impotence Decreased LDL cholesterol concentration Limb tremor Hydronephrosis Macrocephaly Micropenis Hypogonadism Prominent forehead Delayed skeletal maturation Hypospadias Short nose Intrauterine growth retardation Motor neuron atrophy Depressed nasal bridge Cleft palate Proximal spinal muscular atrophy Laryngospasm Erectile abnormalities Exercise-induced muscle cramps Second metatarsal posteriorly placed



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Memory impairment, related diseases and genetic alterations Obesity and Hypermetropia, related diseases and genetic alterations Cryptorchidism and Urinary incontinence, related diseases and genetic alterations Nystagmus and Dysarthria, related diseases and genetic alterations Hypertelorism and Recurrent urinary tract infections, related diseases and genetic alterations

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