Brachydactyly, and Distal sensory impairment

Diseases related with Brachydactyly and Distal sensory impairment

In the following list you will find some of the most common rare diseases related to Brachydactyly and Distal sensory impairment that can help you solving undiagnosed cases.


Top matches:

Medium match AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY


Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.

AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY Is also known as autosomal recessive spastic ataxia type 6|charlevoix-saguenay spastic ataxia|autosomal recessive spastic ataxia of charlevoix-saguenay|spax6|spastic ataxia 6, autosomal recessive|arsacs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


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

Low match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C


HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

Low match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K


Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Related symptoms:

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Low match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Low match SMITH-MAGENIS SYNDROME; SMS


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

Top 5 symptoms//phenotypes associated to Brachydactyly and Distal sensory impairment

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Distal sensory impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Conductive hearing impairment Hyporeflexia Generalized hypotonia Seizures Distal muscle weakness Obesity Abnormality of cardiovascular system morphology Frontal bossing Gait disturbance Sleep disturbance Cognitive impairment Upslanted palpebral fissure Microcephaly Clinodactyly of the 5th finger Pes cavus Brachycephaly Peripheral neuropathy Ataxia Muscle weakness Impaired pain sensation Motor delay Midface retrusion Dysarthria Skeletal muscle atrophy Abnormality of the skeletal system Behavioral abnormality Anteverted nares Sensorineural hearing impairment Delayed speech and language development Failure to thrive Broad-based gait Epicanthus Gastroesophageal reflux Short nose Constipation Anxiety Hoarse voice Strabismus Muscular hypotonia Depressed nasal bridge Myopia Ventriculomegaly Hypothyroidism Pes planus Deeply set eye Stereotypy Self-injurious behavior Malar flattening Short palm Areflexia Hypertelorism Distal amyotrophy Abnormality of the foot EEG abnormality Difficulty walking Gait ataxia

Rare Symptoms - Less than 30% cases


Renal hypoplasia/aplasia Eczema Hypertriglyceridemia Open mouth Neutropenia Macroglossia Dysphagia Hypercholesterolemia Cleft palate Paraplegia Decreased nerve conduction velocity Protruding tongue Microcornea Recurrent infections Falls Broad face Anemia Impaired vibratory sensation Abnormal facial shape Decreased fetal movement Toe syndactyly Retinal detachment Cerebellar atrophy Spastic paraplegia Dysmetria Lower limb spasticity Low-set ears Myoclonus Growth delay Mandibular prognathia Babinski sign Feeding difficulties in infancy Narrow palpebral fissure Edema Attention deficit hyperactivity disorder Hypoplasia of the corpus callosum Wide nasal bridge Cataract Synophrys Clinodactyly Hydronephrosis Hammertoe Short foot Hyperreflexia Broad palm Spasticity Abnormal cerebellum morphology Arrhythmia Inguinal hernia Prominent forehead Hyperactivity Umbilical hernia Sensory neuropathy Aggressive behavior Bilateral single transverse palmar creases Microtia Drooling Downturned corners of mouth Small hand Single transverse palmar crease Hydrocephalus Pectus excavatum Sensory impairment Paralysis Abnormal tracheobronchial morphology Abnormal heart morphology Peripheral demyelination Abnormality of the dentition Progressive spastic paraplegia Neoplasm Pain Feeding difficulties Micrognathia Overweight Short neck Cerebellar vermis atrophy Hyperacusis Hypotrichosis Postaxial polydactyly Flat face Anal atresia Joint laxity Leukemia Thrombocytopenia Developmental regression Midline brain calcifications Narrow mouth Polydactyly Dementia Abnormality of the forearm Duodenal atresia Self-biting Head-banging Short metatarsal Wide intermamillary distance Narrow forehead Congenital diaphragmatic hernia Frequent temper tantrums Sparse scalp hair Short phalanx of finger Sparse and thin eyebrow Short toe Aortic valve stenosis Multicystic kidney dysplasia Short chin Laryngomalacia Pyloric stenosis Hypertension Nephroblastoma Obsessive-compulsive behavior Mild short stature Supernumerary nipple Tracheomalacia Low hanging columella Renal neoplasm Subvalvular aortic stenosis Broad columella Abnormal aortic morphology Pain insensitivity Proximal muscle weakness Hand muscle atrophy Postural instability Decreased fertility Microdontia Intellectual disability, moderate Delayed eruption of teeth Nephropathy Oral cleft Paresthesia Dry skin Lethargy Hyperlordosis Abnormality of the kidney Cleft lip High forehead Abnormality of the larynx Deep palmar crease Abnormal renal morphology Cavum septum pellucidum Recurrent ear infections Polyhydramnios Cerebral cortical atrophy Everted upper lip vermilion Posteriorly rotated ears Velopharyngeal insufficiency Abnormality of metabolism/homeostasis Full cheeks Esotropia Cryptorchidism Sacral dimple Short attention span Chronic constipation Self-mutilation Drowsiness Abnormality of the immune system Abnormality of the thyroid gland Open bite Impulsivity Poor suck Abnormality of the urinary system Abnormality of the outer ear Otitis media Lissencephaly Increased body weight Abnormal vertebral morphology Sinusitis Hypoplasia of dental enamel Heterotopia Pachygyria Omphalocele Abnormality of the cardiovascular system Thick upper lip vermilion Intrauterine growth retardation Acute megakaryocytic leukemia Type II diabetes mellitus Transposition of the great arteries Thickened nuchal skin fold Morphological abnormality of the middle ear Acute lymphoblastic leukemia Thrombocytosis Polycythemia Neurofibrillary tangles Congenital hypothyroidism Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Prematurely aged appearance Atrioventricular canal defect Pelvic kidney Bruxism Hydroureter Alzheimer disease Cholelithiasis Breast carcinoma Sandal gap Narrow palate Aganglionic megacolon Depressed nasal ridge Thick lower lip vermilion Abnormality of upper lip Double outlet right ventricle Left-to-right shunt Myeloproliferative disorder Round ear Brushfield spots Transient myeloproliferative syndrome Crackles Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Duodenal stenosis Abnormality of the lymphatic system Short middle phalanx of the 5th finger Premature atrial contractions Complete atrioventricular canal defect Pulmonary edema Hypoxemia Acute monocytic leukemia Excessive daytime sleepiness Short metacarpal Senile plaques Recurrent aspiration pneumonia Hypoplastic iliac wing Mood changes Underdeveloped nasal alae Short philtrum Round face Progressive sensorineural hearing impairment High palate Distal upper limb amyotrophy Positive Romberg sign Abnormality of peripheral nerve conduction Ulnar deviation of the hand Excessive daytime somnolence Thoracic scoliosis Skeletal muscle hypertrophy Recurrent respiratory infections Language impairment Paraparesis Joint contracture of the hand Short thumb Visual loss Kyphosis Tremor Immunodeficiency Abnormality of the nervous system Visual impairment Leukopenia Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Combined immunodeficiency Glomerulonephritis Recurrent skin infections Vasculitis Respiratory tract infection Lymphopenia Bronchiectasis Inflammatory abnormality of the skin Lymphoma Asthma Hemolytic anemia Erythema Optic atrophy Swan neck-like deformities of the fingers Autoimmune neutropenia Intention tremor Urinary urgency Impotence Decreased motor nerve conduction velocity Cone-shaped epiphysis Absence seizures Foot dorsiflexor weakness Sensorimotor neuropathy Cerebellar vermis hypoplasia Impaired vibration sensation in the lower limbs Mitral valve prolapse Urinary incontinence Progressive cerebellar ataxia Peripheral axonal neuropathy Unsteady gait Abnormal pyramidal sign Nystagmus Progressive spasticity Arachnoid cyst Progressive truncal ataxia Vitamin E deficiency Abnormality of the cerebellar peduncle Hypermyelinated retinal nerve fibers Abnormal motor evoked potentials Abnormality of the pons Parietal cortical atrophy Loss of Purkinje cells in the cerebellar vermis Impaired tactile sensation Decreased sensory nerve conduction velocity Progressive gait ataxia Gaze-evoked horizontal nystagmus Scanning speech Decreased number of large peripheral myelinated nerve fibers Spastic ataxia Upper motor neuron dysfunction Absent Achilles reflex Demyelinating peripheral neuropathy Impaired smooth pursuit Vasculitis in the skin Cortical myoclonus Broad nasal tip Abnormal form of the vertebral bodies Abnormality of the ureter Chronic otitis media Hand polydactyly Failure to thrive in infancy Precocious puberty Tented upper lip vermilion Aplasia/Hypoplasia of the corpus callosum Cleft upper lip Abnormal localization of kidney Delayed puberty Neurological speech impairment Broad forehead Joint stiffness Hyperplasia of midface Hyperextensible hand joints Morphea Taurodontia Large face Narrow jaw Blepharophimosis Highly arched eyebrow Thick vermilion border Wide nose Thin vermilion border Joint hyperflexibility Finger syndactyly Scarring Sparse hair Delayed eruption of primary teeth Autistic behavior Thin upper lip vermilion Coarse facial features Autism Hernia Macrocephaly Corticospinal tract hypoplasia Suicidal ideation Panic attack Flexion contracture Prominent nose Spastic gait Hallucinations Progressive muscle weakness Choreoathetosis Psychosis Overgrowth Specific learning disability Gliosis Spastic paraparesis Joint hypermobility Lower limb muscle weakness Genu valgum Camptodactyly Kyphoscoliosis Intellectual disability, mild Downslanted palpebral fissures Clonus Slurred speech Knee clonus Spastic dysarthria Abnormal hand morphology Abnormality of brain morphology Abnormality of the nares Overbite Mood swings Upper limb spasticity Speech apraxia Abnormality of the thumb Abnormality of the hand Dysuria Upper limb muscle weakness Premature loss of teeth Ankle contracture Scleroderma Ankle clonus Spastic diplegia Emotional lability Sleep-wake inversion



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