Hypertelorism, and Pes cavus

Diseases related with Hypertelorism and Pes cavus

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

Top matches:

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

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

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

Other less relevant matches:

High match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

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

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

17Q11.2 MICRODUPLICATION SYNDROME Is also known as trisomy 17q11.2|nf1 microdeletion syndrome|van asperen syndrome|grisart-destrÉe syndrome|dup(17)(q11.2)|neurofibromatosis 1 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q11.2 MICRODUPLICATION SYNDROME

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

Top 5 symptoms//phenotypes associated to Hypertelorism and Pes cavus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Micrognathia Pectus excavatum Seizures Strabismus Frontal bossing Flexion contracture Joint hypermobility Delayed speech and language development High palate Low-set ears Abnormal facial shape Microcephaly Prominent nose Downslanted palpebral fissures Hypertonia Kyphosis Myopathy Brachydactyly Macrocephaly Kyphoscoliosis Long face Abnormality of the skeletal system Hyperreflexia Talipes equinovarus Malar flattening Ptosis

Rare Symptoms - Less than 30% cases

Coarse facial features Overgrowth Joint hyperflexibility Broad forehead Retrognathia Inguinal hernia Abnormality of cardiovascular system morphology Midface retrusion Cryptorchidism Hoarse voice Breech presentation Limb muscle weakness Arthrogryposis multiplex congenita Difficulty walking Motor delay Specific learning disability Tall stature Deep philtrum Cognitive impairment Myopathic facies Proptosis Overbite Osteoporosis Ankle contracture Gingival overgrowth Protrusio acetabuli Umbilical hernia Large hands Camptodactyly Polydactyly Muscle weakness Epicanthus Pes planus Intellectual disability, mild Failure to thrive Dilatation Pectus carinatum Muscular hypotonia of the trunk Babinski sign Elevated serum creatine phosphokinase Abnormality of the dentition Joint laxity Dysarthria Narrow face Thick eyebrow Progressive microcephaly Eczema Dolichocephaly Bulbous nose Synophrys Thin vermilion border Facial asymmetry Attention deficit hyperactivity disorder Thin upper lip vermilion Arterial tortuosity Abnormal heart morphology Hypoplasia of dental enamel Cafe-au-lait spot Sparse and thin eyebrow Abnormality of dental enamel Sparse eyelashes Neurofibromas Alopecia of scalp Craniosynostosis Broad neck High anterior hairline Plexiform neurofibroma Deviated nasal septum Neurofibrosarcoma Optic nerve glioma Subcutaneous neurofibromas Axillary freckling Aortic dissection Lisch nodules Thick nasal alae Macroorchidism Spondylolisthesis Bifid nose Dermal translucency Bone cyst Ascending tubular aorta aneurysm Long foot Thoracic aortic aneurysm Mild myopia Dural ectasia Mixed respiratory and metabolic acidosis Muscular hypotonia Descending thoracic aorta aneurysm Tachypnea Shock Ascending aortic dissection Absent distal phalanges Lymphedema Lumbar hyperlordosis Pulmonary artery aneurysm Spontaneous pneumothorax Myotonia Decreased fetal movement Hypotension Webbed neck Abnormal bleeding Muscle cramps Metabolic acidosis Bicuspid pulmonary valve Tachycardia Ventricular arrhythmia Ventricular fibrillation Neoplasm Hyperphosphatemia Hearing impairment Spinal neurofibromas Sinus tachycardia Long upper lip Congenital ptosis Diaphragmatic eventration Respiratory arrest Severe lactic acidosis Low hanging columella Abnormality of the coagulation cascade Thoracic kyphosis Malignant hyperthermia Myoglobinuria Scaphocephaly Acute kidney injury Rhabdomyolysis Abnormality of the sternum Hyperkalemia Focal T2 hyperintense basal ganglia lesion Skeletal muscle atrophy Inguinal freckling Cerebellar vermis atrophy Upper limb spasticity Speech apraxia Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Scleroderma Abnormality of the nares Ankle clonus Bifid uvula Chest pain Spastic diplegia Mitral valve prolapse Blue sclerae Hammertoe Dental crowding Mood swings Abnormality of brain morphology Emotional lability Myopia Patent ductus arteriosus Hernia Syndactyly Atrial septal defect Arachnodactyly Postaxial polydactyly Hydrocephalus Recurrent fractures Pain Abnormal hand morphology Cleft palate Hyperplasia of midface Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Panic attack Knee clonus Impaired vibratory sensation Abnormality of the hand Growth delay Hydronephrosis Lower limb muscle weakness Paraplegia Genu valgum Abnormality of the foot Spastic paraplegia Disproportionate tall stature Striae distensae Anxiety Gait ataxia Dysmetria Constipation Dilatation of the cerebral artery Clinodactyly Behavioral abnormality Cerebellar atrophy Anteverted nares Dysphagia Abnormal cardiac septum morphology Aortic aneurysm Distal amyotrophy Slurred speech Narrow palate Exotropia Drooling Joint contracture of the hand Spastic paraparesis Clonus Spastic gait Lactic acidosis Progressive muscle weakness Bicuspid aortic valve Short foot Lower limb spasticity Choreoathetosis Psychosis Arnold-Chiari malformation Gliosis Ectopia lentis Abnormal cerebellum morphology Sleep disturbance Hallucinations Generalized hypertrichosis Muscular dystrophy Fetal akinesia sequence Increased muscle lipid content Generalized limb muscle atrophy Reduced vital capacity Poor fine motor coordination Slender build Type 1 muscle fiber predominance Nemaline bodies Bulbar signs Facial diplegia Neuromuscular dysphagia Neck muscle weakness Spinal rigidity Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Scapular winging Exercise intolerance Fatigable weakness of bulbar muscles Long philtrum Clumsiness Broad thumb Deep-set nails Thin nail Broad foot Hypoplastic toenails Redundant skin Sandal gap Accelerated skeletal maturation Abnormality of the fingernails Abnormality of the metaphysis Macrotia Fine hair Hypoplasia of penis Round face Finger syndactyly Camptodactyly of finger Joint stiffness Feeding difficulties in infancy Low-set, posteriorly rotated ears Muscle stiffness Bradykinesia Depressed nasal bridge Tapered finger Intellectual disability, severe Wide nasal bridge Delayed ability to walk Decreased muscle mass Long eyelashes Postnatal microcephaly Hypsarrhythmia Brain atrophy Highly arched eyebrow Postnatal growth retardation Unsteady gait Talipes Aggressive behavior EEG abnormality Mandibular prognathia Hyperactivity Posteriorly rotated ears Hypoplasia of the corpus callosum Telecanthus Sparse hair Waddling gait Brisk reflexes Narrow chest Polyhydramnios Hyporeflexia Areflexia Cardiomyopathy Feeding difficulties Achilles tendon contracture Thick upper lip vermilion Short chin Blepharophimosis Broad-based gait Hypotelorism Esotropia Underdeveloped nasal alae Smooth philtrum Small for gestational age Prominent nasal bridge Short philtrum Abnormally low-pitched voice Ventricular septal defect Stroke Vertebral compression fractures Finger swelling C1-C2 subluxation Contractures of the large joints Broad metatarsal Camptodactyly of toe Wrist flexion contracture Delayed closure of the anterior fontanelle Generalized osteoporosis Antinuclear antibody positivity Metacarpal osteolysis Ankylosis Hip contracture Arthropathy Narrow nasal bridge Abnormality of the thyroid gland Abnormality of the ear Hypermelanotic macule Abnormality of the thorax Severe generalized osteoporosis Metatarsal osteolysis Osteolysis Fever Hyperlordosis Myalgia Proximal muscle weakness Rigidity Acidosis Hyperhidrosis Arrhythmia Renal insufficiency Sclerotic cranial sutures Carpal osteolysis Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Thin metacarpal cortices Metaphyseal widening Knee flexion contracture Edema Lower limb hyperreflexia Giant platelets Lower limb hypertonia Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Acute lymphoblastic leukemia Mild short stature Folate deficiency Foot dorsiflexor weakness Recurrent otitis media Neutropenia Generalized tonic-clonic seizures Leukemia Skeletal dysplasia Prominent forehead Thrombocytopenia Median cleft palate Hyposegmentation of neutrophil nuclei Thickened skin Hirsutism Decreased body weight Subcutaneous nodule Split hand Hypertrichosis Interphalangeal joint contracture of finger Hypoplasia of the maxilla Delayed eruption of teeth Small hand Corneal opacity Short 3rd metacarpal Arthritis Arthralgia Osteopenia Hypothyroidism Brachycephaly Diabetes mellitus Gait disturbance Cataract Generalized arterial tortuosity


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