Low-set ears, and Pes cavus

Diseases related with Low-set ears and Pes cavus

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

Top matches:

Congenital myasthenic syndrome-19 is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19

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

URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

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

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

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

Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY Is also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Top 5 symptoms//phenotypes associated to Low-set ears and Pes cavus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Low-set ears and Pes cavus. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Short stature Hypertelorism Prominent nose High palate Spasticity Ptosis Retrognathia Micrognathia Joint laxity Strabismus Microcephaly Posteriorly rotated ears Abnormal facial shape Delayed speech and language development Flexion contracture Hypoplasia of the corpus callosum Kyphosis Kyphoscoliosis Facial asymmetry Cryptorchidism Feeding difficulties Synophrys Muscle weakness Tapered finger Abnormality of the skeletal system Difficulty walking Pectus excavatum Joint hypermobility Hip dislocation Motor delay Pectus carinatum

Rare Symptoms - Less than 30% cases

Hydronephrosis Distal amyotrophy Decreased fetal movement Proximal muscle weakness Clinodactyly Arthrogryposis multiplex congenita Congenital hip dislocation Epicanthus Respiratory arrest Recurrent respiratory infections Low-set, posteriorly rotated ears Tall stature Sandal gap Deep philtrum Abnormal cortical gyration Large hands Joint hyperflexibility Midface retrusion Dysphagia Short foot Abnormality of cardiovascular system morphology Long philtrum Hypertonia Macrocephaly Malar flattening Elevated serum creatine phosphokinase Hoarse voice Growth delay Long face Specific learning disability Hyperreflexia Talipes equinovarus Babinski sign Hyperactivity Spinal rigidity Cleft palate Bulbar palsy Thin upper lip vermilion Poor head control Talipes Hypoplasia of dental enamel Overgrowth Bulbous nose Thick eyebrow Gastroesophageal reflux Rigidity Narrow jaw Hearing impairment Generalized muscle weakness Overbite Hyperlordosis Cognitive impairment Intellectual disability, mild Abnormality of the hand Spastic paraparesis Mood swings Slurred speech Drooling Upper limb spasticity Impaired vibratory sensation Emotional lability Ankle contracture Speech apraxia Hammertoe Spastic diplegia Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Ankle clonus Scleroderma Cerebellar vermis atrophy Abnormality of the nares Premature loss of teeth Behavioral abnormality Clonus Plexiform neurofibroma Skeletal muscle atrophy Brachydactyly Dysarthria Failure to thrive Inguinal freckling Spinal neurofibromas Focal T2 hyperintense basal ganglia lesion Deviated nasal septum Anteverted nares Neurofibrosarcoma Optic nerve glioma Subcutaneous neurofibromas Axillary freckling Lisch nodules Thick nasal alae Bifid nose Bone cyst Frontal bossing Cerebellar atrophy Spastic gait Dysmetria Hallucinations Progressive muscle weakness Lower limb spasticity Choreoathetosis Psychosis Gliosis Abnormal cerebellum morphology Sleep disturbance Lower limb muscle weakness Abnormal hand morphology Paraplegia Genu valgum Abnormality of the foot Spastic paraplegia Camptodactyly Anxiety Gait ataxia Constipation Abnormality of brain morphology Bifid uvula Knee clonus Single transverse palmar crease Dental crowding Pachygyria Cerebellar vermis hypoplasia Pancytopenia Sloping forehead Convex nasal ridge Dental malocclusion Triangular face Pulmonic stenosis Elbow flexion contracture Leukemia Small for gestational age Microtia Blepharophimosis Postnatal growth retardation Abnormality of the pinna Intellectual disability, moderate Pes planus Narrow face Narrow palate Severe short stature 11 pairs of ribs Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Ivory epiphyses Small anterior fontanelle Lumbar scoliosis Selective tooth agenesis Acute monocytic leukemia Abnormally large globe Patent foramen ovale Chromosome breakage Cone-shaped epiphyses of the phalanges of the hand Severe intrauterine growth retardation Proportionate short stature Dislocated radial head Acute myeloid leukemia Myeloid leukemia Clitoral hypertrophy Myelodysplasia Upslanted palpebral fissure Clinodactyly of the 5th finger Panic attack Atrial septal defect Smooth philtrum Hypermetropia Polydactyly Brachycephaly Prominent forehead Cerebellar hypoplasia Patent ductus arteriosus Abnormality of the dentition Respiratory distress Astigmatism Ventriculomegaly Myopia Wide nasal bridge Depressed nasal bridge Cataract Hyperplasia of midface Hyperextensible hand joints Morphea Suicidal ideation Anal atresia Postaxial polydactyly Delayed skeletal maturation Abnormality of the genitourinary system Hypospadias Ventricular septal defect Intrauterine growth retardation Anemia Unilateral breast hypoplasia Abnormality of thyroid physiology Flared nostrils Lower limb asymmetry Sacral dimple Small hand Renal dysplasia Choanal atresia Hypertrichosis Short palpebral fissure Hypotelorism Narrow forehead Dandy-Walker malformation Hip dysplasia Macroorchidism Long foot Myotonia Broad neck Camptodactyly of finger Broad thumb Abnormality of the metaphysis Fine hair Hypoplasia of penis Round face Finger syndactyly Broad forehead Joint stiffness Accelerated skeletal maturation Feeding difficulties in infancy Macrotia Inguinal hernia Dislocation of toes Pugilistic facies Marked muscular hypertrophy Broad nail Abnormality of the fingernails Redundant skin Camptodactyly of toe Polyhydramnios EMG: myopathic abnormalities Microretrognathia Diplopia Cyanosis Waddling gait Esotropia Ophthalmoplegia Hyporeflexia Hypoplastic toenails Areflexia Sensorineural hearing impairment Nystagmus Ataxia Abnormally low-pitched voice Deep-set nails Thin nail Broad foot Progressive pes cavus Hyperplasia of the maxilla Dysphonia Mandibular prognathia Brain atrophy Highly arched eyebrow Unsteady gait Dolichocephaly Muscular hypotonia of the trunk Aggressive behavior EEG abnormality Chronic lung disease Postnatal microcephaly Recurrent lower respiratory tract infections Centrally nucleated skeletal muscle fibers Exercise intolerance Abnormal lung morphology Facial palsy Dyspnea Respiratory insufficiency Hypsarrhythmia Long eyelashes Brachyturricephaly Joint contracture of the hand Limited elbow movement Eclabion Broad palm Hallux valgus Skeletal muscle hypertrophy Abnormality of the voice Prominent supraorbital ridges Mitral regurgitation Progressive microcephaly Ventricular hypertrophy Everted lower lip vermilion Wide nose Hypertrophic cardiomyopathy Congestive heart failure Cardiomyopathy Delayed ability to walk Decreased muscle mass Easy fatigability Poor suck Alopecia of scalp Myopathic facies Malignant hyperthermia Myoglobinuria Scaphocephaly Acute kidney injury Rhabdomyolysis Abnormality of the sternum Hyperkalemia Abnormality of the coagulation cascade Low hanging columella Ventricular fibrillation Ventricular arrhythmia Tachypnea Shock Lymphedema Lumbar hyperlordosis Hypotension Thoracic kyphosis Hyperphosphatemia Abnormal bleeding Coarse facial features Neurofibromas Sparse eyelashes Abnormality of dental enamel Sparse and thin eyebrow Cafe-au-lait spot Thin vermilion border Attention deficit hyperactivity disorder Abnormal heart morphology Breech presentation Muscular hypotonia Neoplasm Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Congenital ptosis Diaphragmatic eventration Severe lactic acidosis Webbed neck Muscle cramps Nasal speech Distal lower limb muscle weakness Sudden episodic apnea Staring gaze EEG with polyspike wave complexes Central sleep apnea Spinal deformities Muscle fiber atrophy Motor polyneuropathy Limb-girdle muscle weakness Apneic episodes precipitated by illness, fatigue, stress Obstructive sleep apnea Central hypotonia Neck muscle weakness Fatigable weakness Weak cry Toe walking Stridor Nasal regurgitation Choking episodes Metabolic acidosis Hyperhidrosis Tachycardia Lactic acidosis Limb muscle weakness Muscular dystrophy Stroke Myalgia Acidosis Arrhythmia Intermittent episodes of respiratory insufficiency due to muscle weakness Dilatation Renal insufficiency Myopathy Fever Acetylcholine receptor antibody positivity EMG: impaired neuromuscular transmission Episodic respiratory distress Frontalis muscle weakness Hypoplasia of proximal fibula


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