Low-set ears, and Sensory impairment

Diseases related with Low-set ears and Sensory impairment

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

Top matches:

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Other less relevant matches:

Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

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

Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004).See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1 ), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (OMIM ) on chromosome 1p36.

STUVE-WIEDEMANN SYNDROME Is also known as sws|schwartz-jampel syndrome, type 2|stws|stuve-wiedemann/schwartz-jampel type 2 syndrome|schwartz-jampel syndrome, neonatal|sjs2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about STUVE-WIEDEMANN SYNDROME

Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.

CHOROID PLEXUS CARCINOMA Is also known as sgs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOROID PLEXUS CARCINOMA

SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

Top 5 symptoms//phenotypes associated to Low-set ears and Sensory impairment

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Downslanted palpebral fissures Seizures Peripheral neuropathy Abnormal facial shape Pain Epicanthus Deeply set eye Strabismus High palate Hoarse voice Gastroesophageal reflux Microcephaly High forehead Midface retrusion Failure to thrive Abnormality of the skeletal system Camptodactyly Single transverse palmar crease Ataxia Hydronephrosis Clinodactyly Malar flattening Dysarthria Short nose Short neck Cerebellar atrophy Constipation Prominent forehead Gait ataxia Frontal bossing Dysmetria Long face Myopia Feeding difficulties Stereotypy Impaired pain sensation Dysphagia Growth delay Posteriorly rotated ears Decreased fetal movement Paralysis Flexion contracture Upslanted palpebral fissure Edema

Rare Symptoms - Less than 30% cases

Thickened cortex of long bones Motor delay Sleep disturbance Anxiety Respiratory distress Pes cavus Behavioral abnormality Brachydactyly Hyporeflexia Spasticity Drooling Hyperhidrosis Synophrys Micropenis Narrow mouth Cryptorchidism Delayed myelination Joint hypermobility Spastic paraparesis Spastic diplegia Apnea Coarse facial features Tibial bowing Hearing impairment Ventriculomegaly Hypoplasia of the corpus callosum Atrial septal defect Abnormality of cardiovascular system morphology Abnormal heart morphology Hypothyroidism Macroglossia Scoliosis Cleft palate Small hand Muscle weakness Patent ductus arteriosus Ptosis Depressed nasal bridge Talipes equinovarus Skeletal muscle atrophy Micrognathia Neurological speech impairment Syndactyly Narrow face Broad forehead Cerebellar hypoplasia Hyperactivity Cerebral cortical atrophy Pointed chin Macrocephaly Broad nasal tip Paresthesia Arthropathy Intellectual disability, mild Neonatal hypotonia Aggressive behavior Metopic suture patent to nasal root Choanal stenosis Aplasia/Hypoplasia of the pubic bone Vocal cord paralysis Arachnoid cyst Increased density of long bones Wide distal femoral metaphysis Shallow orbits Broad ribs Hypoplastic nipples Infantile spasms Opisthotonus Sensorineural hearing impairment Abdominal distention Hydroureter Peripheral axonal neuropathy Hypoplastic labia majora Hypoplasia of first ribs Sacrococcygeal teratoma Abnormality of the nasopharynx Facial hemangioma Hypoplastic labia minora Ureteral stenosis Embryonal neoplasm Widely patent fontanelles and sutures Hepatoblastoma Hyperconvex nail Intestinal malrotation Bicornuate uterus Teratoma Sclerosis of skull base Wide cranial sutures Long clavicles Diabetes insipidus Alacrima Short sternum Primitive neuroectodermal tumor Short 1st metacarpal Hyperacusis Tricuspid regurgitation Abnormal metaphyseal trabeculation Mitral valve prolapse Curly hair Absent eyebrow Neoplasm Sparse eyebrow Metaphyseal rarefaction Pulmonary arterial medial hypertrophy Bilateral ptosis Blotching pigmentation of the skin Absent patellar reflexes Cerebral atrophy Broad ischia Shivering Increased upper to lower segment ratio Smooth tongue Hypoplastic iliac body Contracture of the proximal interphalangeal joint of the 5th finger Elevated pulmonary artery pressure Pursed lips Mitochondrial respiratory chain defects Square face Intellectual disability, severe Dilatation Wide nasal bridge Hypertrichosis Smooth philtrum Radioulnar synostosis Scrotal hypoplasia Wormian bones Telangiectasia Abnormality of the genital system Progressive neurologic deterioration Ichthyosis Feeding difficulties in infancy Hypsarrhythmia Hypospadias Sloping forehead Postaxial hand polydactyly Neurodegeneration Hepatic steatosis Short distal phalanx of finger Confusion Postnatal growth retardation Thrombocytopenia Vomiting Neuropathic arthropathy Cataract Abnormality of metabolism/homeostasis Intrauterine growth retardation Poor suck Protruding tongue Broad palm Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Open bite Abnormal tracheobronchial morphology Impulsivity Self-injurious behavior Abnormality of the urinary system Multiple lipomas Sacral dimple Volvulus Intestinal pseudo-obstruction Midline brain calcifications Abnormality of the forearm Head-banging Abnormality of the outer ear Hypercholesterolemia Lissencephaly Frequent temper tantrums Drowsiness Overweight Abnormal vertebral morphology Pyloric stenosis Recurrent aspiration pneumonia Excessive daytime sleepiness Velopharyngeal insufficiency Everted upper lip vermilion Recurrent ear infections Cavum septum pellucidum Abnormal renal morphology Deep palmar crease Abnormality of the larynx Intestinal obstruction Morphological abnormality of the middle ear Broad face Thick upper lip vermilion Premature atrial contractions Duodenal atresia Pelvic kidney Bruxism Short attention span Abnormality of upper lip Chronic constipation Self-mutilation Increased body weight Sinusitis Abnormality of the dentition Conductive hearing impairment Lethargy Microtia Hyperlordosis Low-set, posteriorly rotated ears Sparse hair Congenital shortened small intestine Abnormality of the kidney Cleft lip Intellectual disability, moderate EEG abnormality Dry skin Pes planus Polyhydramnios Pulmonic stenosis Mandibular prognathia Brachycephaly Clinodactyly of the 5th finger Inguinal hernia Areflexia Obesity Mood changes Aganglionic megacolon Hemangioma Hypoplasia of dental enamel Full cheeks Multiple skeletal anomalies Heterotopia Pachygyria Omphalocele Broad-based gait Hypertriglyceridemia Abnormality of the cardiovascular system Otitis media Esotropia Microcornea Proptosis Delayed eruption of teeth Retinal detachment Nephropathy Short palm Sleep-wake inversion Cardiomyopathy Falls Hyperkeratosis Oral cleft Increased mean platelet volume Fine hair Osteoporosis Talipes valgus Sleep apnea Tented philtrum Diastasis recti Facial hypotonia Obstructive sleep apnea Cortical dysplasia Supernumerary nipple Incoordination Recurrent upper respiratory tract infections Tented upper lip vermilion Plagiocephaly Thin upper lip vermilion Open mouth Brain atrophy Everted lower lip vermilion Poor speech Hypermetropia Short philtrum Recurrent respiratory infections Absent speech Segmental myoclonic seizures Hypoplastic hippocampus Abnormality of the renal collecting system Muscular hypotonia of the trunk Short ear Delayed ability to walk Pectus excavatum Hyperreflexia Cognitive impairment Broad chin Overfolding of the superior helices Horizontal eyebrow Oval face Pain insensitivity Inverted nipples Myopathic facies Prominent nasal bridge Overfolded helix Deep philtrum Poor head control Abnormality of the genitourinary system Short chin Apraxia Vesicoureteral reflux Triangular face Downturned corners of mouth Astigmatism Hippocampal atrophy Mesiodens Kyphoscoliosis Scapular winging Radial head subluxation Cutis gyrata of scalp Peripheral axonal degeneration Neuritis Weak voice Dysesthesia Chronic pain Facial paralysis Axonal degeneration Narrow palpebral fissure Nystagmus Hypotelorism Bifid uvula Postural instability Facial asymmetry Finger syndactyly Blepharophimosis Myalgia Rigidity Depressivity Fatigue Brachial plexus neuropathy Tremor Narrow nasal tip Infantile muscular hypotonia Poor motor coordination Abnormal social behavior Nonprogressive cerebellar ataxia Positive Romberg sign Impaired social interactions Abnormal cortical gyration Large forehead Palpebral edema Brisk reflexes Depressed nasal ridge Long philtrum Thick lower lip vermilion Intention tremor Memory impairment Generalized myoclonic seizures Wide nose Bulbous nose Unsteady gait Abnormal pyramidal sign Autistic behavior Protruding ear Babinski sign Difficulty walking Broad long bones Pulmonary arterial hypertension Knee flexion contracture Paraparesis Abnormal autonomic nervous system physiology Elbow flexion contracture Sensorimotor neuropathy Short phalanx of finger Bowing of the long bones Thin skin Short palpebral fissure Limb undergrowth Abnormality of dental enamel Recurrent fractures Pulmonary hypoplasia Hepatic failure Talipes Corneal opacity Skeletal dysplasia Respiratory failure Visual loss Recurrent infections Respiratory insufficiency Aminoaciduria Opacification of the corneal stroma Hypertension Thin ribs Temperature instability Flexion contracture of toe Wide nasal base Ulnar deviation of the hand Enlarged joints Megaloblastic anemia Short tibia Episodic fever Ulnar deviation of finger Pathologic fracture Adducted thumb Hypokinesia Femoral bowing Flared metaphysis Mask-like facies Myotonia Cubitus valgus Congenital contracture Metaphyseal widening Patent foramen ovale Nasal speech Fever Anemia Spastic paraplegia Psychosis Emotional lability Abnormality of the hand Slurred speech Clonus Spastic gait Hallucinations Progressive muscle weakness Lower limb spasticity Choreoathetosis Overgrowth Hammertoe Specific learning disability Prominent nose Gliosis Abnormal cerebellum morphology Short foot Distal amyotrophy Lower limb muscle weakness Paraplegia Genu valgum Abnormality of the foot Impaired vibratory sensation Ankle clonus Muscular hypotonia Abnormality of the nares Hyperplasia of midface Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormality of brain morphology Overbite Scleroderma Mood swings Upper limb spasticity Speech apraxia Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Ankle contracture Cerebellar vermis atrophy Increased size of the mandible


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