Hypertelorism, and Arthrogryposis multiplex congenita

Diseases related with Hypertelorism and Arthrogryposis multiplex congenita

In the following list you will find some of the most common rare diseases related to Hypertelorism and Arthrogryposis multiplex congenita that can help you solving undiagnosed cases.

Top matches:

Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.

Related symptoms:

  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about INTERMEDIATE NEMALINE MYOPATHY

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1 Is also known as herva disease|multiple contracture syndrome, finnish type|lccs|lccs1

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1

Other less relevant matches:

Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 2; BRWS2

Pontocerebellar hypoplasia type 1D is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D

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

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Decreased fetal movement Uncommon - Between 30% and 50% cases
Polyhydramnios Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Microcephaly Generalized muscle weakness Global developmental delay Low-set ears Respiratory failure Intrauterine growth retardation Motor delay Failure to thrive Abnormal facial shape Intellectual disability High palate Ptosis Muscle weakness Micrognathia Skeletal muscle atrophy Congenital contracture Spasticity Short neck Pulmonary hypoplasia Scoliosis Webbed neck Hypertonia Cardiomyopathy

Rare Symptoms - Less than 30% cases

Adducted thumb Hip dislocation Thin upper lip vermilion Myopathy Congestive heart failure Atrial septal defect Weak cry Abnormal cardiac septum morphology Fractures of the long bones Spinal muscular atrophy Pterygium Multiple joint contractures Wide nasal bridge Growth delay Respiratory tract infection Dysphagia Long philtrum Areflexia Hyporeflexia Facial palsy Agenesis of corpus callosum Lissencephaly Premature birth Severe muscular hypotonia Abnormality of the thorax Myopathic facies Ventriculomegaly Hyperreflexia Multiple prenatal fractures Feeding difficulties Talipes equinovarus Respiratory insufficiency Respiratory distress Neonatal hypotonia Difficulty running Centrally nucleated skeletal muscle fibers Difficulty climbing stairs Ankle contracture Cleft soft palate Calf muscle hypertrophy Ventricular septal defect Congenital muscular dystrophy Abnormality of eye movement Pointed chin Trigonocephaly Long palpebral fissure Retinal coloboma Nystagmus Epicanthus Cerebellar atrophy Cerebral atrophy Recurrent respiratory infections Inability to walk Radioulnar synostosis Fasciculations Poor head control Oral-pharyngeal dysphagia Abnormal levels of creatine kinase in blood Arrhythmia Elevated serum creatine phosphokinase Muscular dystrophy Dilated cardiomyopathy Knee flexion contracture Left ventricular noncompaction Generalized amyotrophy Increased endomysial connective tissue Anxiety Hydrocephalus Behavioral abnormality Intellectual disability, mild Hypospadias Hyperactivity Glaucoma Autism Gastroesophageal reflux Intellectual disability, moderate Frontal bossing Autistic behavior Attention deficit hyperactivity disorder Hip dysplasia Specific learning disability Tetralogy of Fallot Hallucinations Schizophrenia Relative macrocephaly Hypoplasia of the corpus callosum Macrocephaly Minicore myopathy Patent foramen ovale Mitochondrial depletion Peripheral neuropathy Patent ductus arteriosus Narrow mouth Peripheral axonal neuropathy Oligohydramnios Hypohidrosis Microretrognathia Neonatal respiratory distress Cryptorchidism Increased variability in muscle fiber diameter Heterotopia Axonal loss Secundum atrial septal defect Muscle fiber atrophy Diaphragmatic eventration Strabismus Muscular hypotonia Cataract Postnatal microcephaly Kyphoscoliosis Pachygyria Slender long bone Low-set, posteriorly rotated ears Recurrent fractures Limitation of joint mobility Abnormality of the ribs Abnormal form of the vertebral bodies Akinesia Abnormality of the hip bone Abnormality of the elbow Fatigable weakness Fetal akinesia sequence Abnormal cortical bone morphology Amniotic constriction ring Hypoplasia of the musculature Abnormality of the amniotic fluid Abnormality of the spinal cord Widening of cervical spinal canal Edema Prominent occiput Cerebellar hypoplasia Type 1 muscle fiber predominance Difficulty walking Ophthalmoplegia High, narrow palate EMG: myopathic abnormalities Hypokinesia Facial diplegia Nemaline bodies Mandibular prognathia Gowers sign Apnea Long face Falls Dental malocclusion Frequent falls Narrow palpebral fissure Easy fatigability Poor suck Paucity of anterior horn motor neurons Macrotia Highly arched eyebrow Retrognathia Thoracic kyphoscoliosis Abnormality of the diaphragm Short umbilical cord Hearing impairment Sensorineural hearing impairment Microphthalmia Abnormal heart morphology Telecanthus Preeclampsia Cleft lip Abnormality of the pinna Joint stiffness Wide mouth Coloboma Oral cleft Wide nose Ulnar deviation of the hand Cardiorespiratory arrest Muscular hypotonia of the trunk Limb hypertonia Poor speech Bulbous nose Thick vermilion border Renal agenesis Sloping forehead Hypoplasia of the brainstem Cortical gyral simplification Decreased head circumference Ankylosis Depressed nasal bridge Hypertension Anteverted nares Camptodactyly Talipes Triangular face Joint contracture of the hand Bilateral talipes equinovarus Constrictive median neuropathy


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