Abnormal facial shape, and Distal amyotrophy

Diseases related with Abnormal facial shape and Distal amyotrophy

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


Top matches:

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

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 PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B


Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B

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Other less relevant matches:

Low match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Low match CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY


Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.

CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY Is also known as bone fragility-contractures-arterial rupture-deafness syndrome|lh3 deficiency|connective tissue disorder due to lh3 deficiency|lysyl hydroxylase 3 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY

Low match MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME


MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Low match BETA-MANNOSIDOSIS


Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

BETA-MANNOSIDOSIS Is also known as beta-mannosidase deficiency|beta-mannosidosis|lysosomal beta-mannosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BETA-MANNOSIDOSIS

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY


Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

Low match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Low match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Distal amyotrophy

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Difficulty walking Dysphagia Tremor Muscle weakness Delayed speech and language development Hearing impairment Cognitive impairment Peripheral neuropathy Spasticity Scoliosis Long face High palate Intention tremor Motor delay Distal lower limb amyotrophy Proximal muscle weakness Muscular hypotonia Flexion contracture Cerebellar hypoplasia Dysarthria Skeletal muscle atrophy Micrognathia Absent speech Myopia Areflexia Hyporeflexia Gait ataxia Progressive muscle weakness Mandibular prognathia Pectus carinatum Hyperreflexia Feeding difficulties Myopathy Growth delay Falls Cerebellar atrophy Pectus excavatum Pes cavus Babinski sign

Rare Symptoms - Less than 30% cases


Spastic paraplegia Muscular hypotonia of the trunk Strabismus Abnormality of the foot Motor neuron atrophy Hand tremor Cerebral atrophy Tongue atrophy Microcephaly Cataract Paraplegia Sensorineural hearing impairment Ophthalmoplegia Stridor Unsteady gait Neurological speech impairment Aggressive behavior Recurrent respiratory infections Truncal ataxia Limb ataxia Kyphoscoliosis Short stature Thenar muscle atrophy Talipes equinovarus Low-set ears Esotropia Talipes Inability to walk Peripheral axonal neuropathy Deeply set eye Upslanted palpebral fissure Delayed skeletal maturation Short nose Bulbar palsy Hypoplasia of the pons Weak cry Gaze-evoked nystagmus Adducted thumb Poor head control Oculomotor apraxia Dysmetria Axonal loss Dilatation Distal lower limb muscle weakness Myalgia Increased variability in muscle fiber diameter Muscular dystrophy Fasciculations Neck muscle weakness Abnormal cerebellum morphology Sensory neuropathy Infertility Pneumonia EMG: myopathic abnormalities Elevated serum creatine phosphokinase Gait disturbance Pain Myopathic facies Decreased fetal movement Respiratory insufficiency Distal muscle weakness Easy fatigability Type II diabetes mellitus Spinal muscular atrophy Hypertonia Dysphonia Arthrogryposis multiplex congenita Waddling gait Frequent falls Generalized muscle weakness Respiratory failure Sensory impairment Hyperactive deep tendon reflexes Colitis Ankle clonus Sensory axonal neuropathy Impaired proprioception Postural tremor Abnormality of the sella turcica Pancreatitis Type I diabetes mellitus Horizontal nystagmus External ophthalmoplegia Abnormal involuntary eye movements Parietal cortical atrophy Old-aged sensorineural hearing impairment Speech apraxia Uveitis Retinal atrophy Iridocyclitis Oligomenorrhea Progeroid facial appearance Head tremor Delayed menarche Corpus callosum atrophy Saccadic smooth pursuit Ulcerative colitis Lower limb spasticity Amyotrophic lateral sclerosis Memory impairment Impulsivity Demyelinating peripheral neuropathy Tics Communicating hydrocephalus Proximal amyotrophy Pendular nystagmus Neurodevelopmental delay Respiratory distress Angiokeratoma Laryngomalacia Spastic tetraparesis Narrow palpebral fissure Spastic tetraplegia Epileptic encephalopathy Lower limb muscle weakness Generalized tonic-clonic seizures Subcortical cerebral atrophy Urinary glycosaminoglycan excretion Progressive cerebellar ataxia Hypogonadism Postural instability Arachnodactyly Rigidity Hypothyroidism Glaucoma Diabetes mellitus Myoclonus Angiokeratoma corporis diffusum Alopecia Hypoplasia of the corpus callosum Increased urinary disaccharide excretion Hypoplasia of the abdominal wall musculature Aspartylglucosaminuria Tortuosity of conjunctival vessels Phonic tics Abnormal motor evoked potentials Poor suck Ptosis Hypermetropia Short foot High, narrow palate Short distal phalanx of finger Short palm Smooth philtrum Poor speech Prominent nasal bridge Hypoplasia of the maxilla Camptodactyly of finger Protruding ear Intellectual disability, moderate Thin upper lip vermilion Macrotia Autism Tapered finger Decreased testicular size Clinodactyly Shuffling gait Small forehead Low frustration tolerance Lower limb hypertonia Alopecia areata Diastema Furrowed tongue Facial hypotonia Interphalangeal joint contracture of finger Restlessness Multiple cafe-au-lait spots Progressive spastic paraplegia Lower limb hyperreflexia Large hands Intellectual disability, progressive Decreased body weight Micropenis Intellectual disability, severe Polyhydramnios Nasal speech Limb-girdle muscle weakness Obstructive sleep apnea Central hypotonia Fatigable weakness Spinal rigidity Toe walking Attention deficit hyperactivity disorder Muscle fiber atrophy Microretrognathia Congenital hip dislocation Diplopia Cyanosis Joint laxity Gastroesophageal reflux Motor polyneuropathy Respiratory arrest Macrocephaly Intermittent episodes of respiratory insufficiency due to muscle weakness Brachydactyly Cryptorchidism Acetylcholine receptor antibody positivity EMG: impaired neuromuscular transmission Episodic respiratory distress Frontalis muscle weakness Narrow jaw Spinal deformities Choking episodes Apneic episodes precipitated by illness, fatigue, stress Nasal regurgitation Sudden episodic apnea Staring gaze EEG with polyspike wave complexes Central sleep apnea Congestive heart failure Prolactin excess Kyphosis Abnormal lower motor neuron morphology Retinal dystrophy Gliosis Brain atrophy Apraxia Progressive microcephaly Cone/cone-rod dystrophy Difficulty running Centrally nucleated skeletal muscle fibers Congenital contracture Hypoplasia of the brainstem Brisk reflexes Global brain atrophy Difficulty climbing stairs Decreased muscle mass Tongue fasciculations Facial diplegia Frontal bossing Narrow face Muscle stiffness Knee flexion contracture Respiratory insufficiency due to muscle weakness Cardiomyopathy Abnormality of the skeletal system Optic atrophy Degeneration of anterior horn cells Congenital muscular dystrophy Retrocerebellar cyst Abnormal anterior horn cell morphology Talipes valgus Atrophy of the spinal cord Cerebellar cyst Thoracic kyphosis Nemaline bodies Open mouth Limb tremor Decreased fertility Calf muscle hypertrophy Muscle fibrillation Abnormality of lipid metabolism Overweight Abnormality of the mouth Limb-girdle muscular dystrophy Aspiration pneumonia Bulbar signs Oligospermia Kinetic tremor Testicular atrophy Hyperlipoproteinemia Decreased LDL cholesterol concentration Hyperlipidemia Slender build Facial asymmetry Myokymia Severe global developmental delay Hip dislocation Shoulder girdle muscle atrophy Visual impairment Limb muscle weakness Neurodegeneration Exercise-induced muscle cramps Muscle cramps Gynecomastia Aspiration Proximal spinal muscular atrophy Laryngospasm Erectile abnormalities High forehead Hypertrophic cardiomyopathy Hepatosplenomegaly Dysdiadochokinesis Intellectual disability, mild Depressivity Facial palsy Anxiety Pallor Retinopathy Distal sensory impairment Small hand Amenorrhea Pigmentary retinopathy Primary amenorrhea Pes planus Retrognathia Schizophrenia Gowers sign Arterial rupture Ventriculomegaly Cerebral cortical atrophy Brachycephaly Hyperactivity Dyspnea Abnormality of metabolism/homeostasis Recurrent infections Enlarged interhemispheric fissure Multiple lipomas Speech articulation difficulties Thick hair Impotence Mitochondrial myopathy Poor coordination Hyperthyroidism Hyperlordosis Decreased palmar creases Congenital cataract Abnormality of mitochondrial metabolism Osteopenia Malar flattening Long philtrum Anteverted nares Intrauterine growth retardation Narrow chest Optic nerve hypoplasia Abnormality of the pinna Absence seizures Hip dysplasia Aciduria Increased serum lactate Lumbar hyperlordosis Delayed puberty Postnatal growth retardation Scarring J-shaped sella turcica Hemiplegia Diaphragmatic eventration Hypoplasia of the capital femoral epiphysis Porencephalic cyst Shallow orbits Dilatation of the cerebral artery Pathologic fracture Coarse hair Platyspondyly Elbow flexion contracture Bilateral sensorineural hearing impairment Nail dysplasia Downturned corners of mouth Bruising susceptibility Flat face Talipes calcaneovarus



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