Hypertelorism, and Myopathy

Diseases related with Hypertelorism and Myopathy

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

Top matches:

Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

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

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

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

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

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET NEMALINE MYOPATHY

Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Myopathy

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Arthrogryposis multiplex congenita Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Myopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Scoliosis Camptodactyly Polyhydramnios Motor delay High palate Facial palsy Generalized muscle weakness Global developmental delay Talipes equinovarus Talipes Adducted thumb Muscle weakness Elevated serum creatine phosphokinase Abnormal facial shape Cardiomyopathy Short stature Long philtrum Narrow face Small for gestational age Wide nasal bridge Areflexia Growth delay Intellectual disability Prominent nasal bridge Decreased fetal movement

Rare Symptoms - Less than 30% cases

Myopathic facies EMG: myopathic abnormalities Feeding difficulties Microcephaly Mildly elevated creatine phosphokinase Nemaline bodies Difficulty walking Respiratory failure Hyporeflexia Facial diplegia Downslanted palpebral fissures Type 1 muscle fiber predominance Protruding ear Narrow mouth Kyphoscoliosis Triangular face Short chin Congenital contracture Bilateral talipes equinovarus Prominent nose Long face Hip dislocation Pes cavus Webbed neck Telecanthus High, narrow palate Muscular dystrophy Joint contracture of the hand Respiratory insufficiency due to muscle weakness Neonatal hypotonia Fetal akinesia sequence Overlapping fingers Seizures Strabismus Frontal bossing Arachnodactyly Abnormality of the hip bone Increased muscle lipid content Neck muscle weakness Bulbar signs Breech presentation Slender build Poor fine motor coordination Reduced vital capacity Ulnar deviation of the hand or of fingers of the hand Generalized limb muscle atrophy Calcaneovalgus deformity Fatigable weakness of bulbar muscles Ulnar deviation of the wrist Neuromuscular dysphagia Cleft palate Cataract Cognitive impairment Hydrocephalus Microphthalmia Trismus Cerebellar hypoplasia Agenesis of corpus callosum Polydactyly Spinal rigidity Increased variability in muscle fiber diameter Hydronephrosis Facial hypotonia Mitral valve prolapse Blue sclerae Mitral regurgitation Dental crowding Joint dislocation Delayed gross motor development Hyperextensible skin Patent foramen ovale Fragile skin Hypoplasia of the musculature Scapular winging Dolichocephaly Narrow chest Round ear Prominent nasolabial fold Limb muscle weakness Waddling gait Bradykinesia Clumsiness Muscle stiffness Exercise intolerance Deeply set eye Abnormality of the pinna Tarsal synostosis Joint stiffness Hearing impairment Epicanthus Short neck Ulnar deviation of finger Malar flattening Severe short stature Posteriorly rotated ears Mandibular prognathia Cleft lip Camptodactyly of finger Jejunal atresia Abnormality of the foot Facial asymmetry Bilateral single transverse palmar creases Congenital hip dislocation Narrow palpebral fissure Rocker bottom foot Metatarsus adductus Multiple joint contractures Vertebral segmentation defect Abnormality of the ear Corneal astigmatism Hypoplastic iris stroma Wide mouth Optic nerve hypoplasia Coloboma Malabsorption Astigmatism Iris coloboma Bruising susceptibility Intestinal malrotation Cerebellar vermis hypoplasia Distal arthrogryposis Renal hypoplasia Short palpebral fissure Aplasia/Hypoplasia of the radius Bilateral renal hypoplasia Preaxial polydactyly Short columella Sclerocornea Duodenal atresia Ectopia pupillae Sex reversal Peters anomaly Intestinal atresia Accessory spleen Retinal vascular tortuosity Microcornea Dysphagia Joint hypermobility Thoracic kyphoscoliosis Lethargy Pulmonary hypoplasia Hypoglycemia Pterygium Acidosis Diabetes mellitus Ankylosis Cardiorespiratory arrest Preeclampsia Ulnar deviation of the hand Abnormality of the diaphragm Downturned corners of mouth Short umbilical cord Osteoporosis Vomiting Ventricular septal defect Atrial septal defect Congestive heart failure Arrhythmia Abnormal cardiac septum morphology Cryptorchidism Dilated cardiomyopathy Thin upper lip vermilion Anteverted nares Radioulnar synostosis Abnormality of the thorax Hyperglycerolemia Increased urinary glycerol Adrenocortical hypoplasia Congenital adrenal hypoplasia Episodic vomiting Ophthalmoplegia Adrenal hypoplasia Premature birth Severe muscular hypotonia Ketoacidosis Pathologic fracture Metabolic acidosis Hypokinesia Loss of consciousness Adrenal insufficiency Hyperlipidemia Multiple prenatal fractures Hypertriglyceridemia Coma Depressed nasal bridge Hypertension Intrauterine growth retardation Knee flexion contracture Congenital muscular dystrophy Scarring Thick upper lip vermilion Akinesia Thick eyebrow Poor suck Underdeveloped nasal alae Esotropia Eczema Hypotelorism Broad-based gait Progressive microcephaly Brisk reflexes Achilles tendon contracture Synophrys Pain Single transverse palmar crease Cerebral atrophy Midface retrusion Hernia Inguinal hernia Brachycephaly Skeletal muscle atrophy Arthralgia Myalgia Smooth philtrum Scaphocephaly Calf muscle hypertrophy Spasticity Difficulty climbing stairs Centrally nucleated skeletal muscle fibers Difficulty running Ankle contracture Cleft soft palate Left ventricular noncompaction Abnormal levels of creatine kinase in blood Increased endomysial connective tissue Minicore myopathy Mitochondrial depletion Delayed speech and language development Short philtrum Hyperreflexia Dysarthria Oval face Intellectual disability, severe Abnormality of the dentition Hypertonia Muscular hypotonia of the trunk Postnatal growth retardation Sparse hair Blepharophimosis Absent phalangeal crease


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