Brachydactyly, and Areflexia

Diseases related with Brachydactyly and Areflexia

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


Top matches:

Low 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 MARINESCO-SJÖGREN SYNDROME


Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN 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

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Other less relevant matches:

Low match INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME


Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

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

Low match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Low match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1B


Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

Low match X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME


X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1C


Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).

PSEUDOHYPOPARATHYROIDISM TYPE 1C Is also known as php ic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1C

Top 5 symptoms//phenotypes associated to Brachydactyly and Areflexia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Hyporeflexia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Areflexia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Cataract High palate Anteverted nares Delayed speech and language development Anxiety Delayed eruption of teeth Sensorineural hearing impairment Hypertelorism Short metacarpal Hypoplasia of dental enamel Epicanthus Microcephaly Low-set ears Cognitive impairment Abnormality of the skeletal system Peripheral neuropathy Cerebellar atrophy Paresthesia Hypoplasia of the corpus callosum Dysarthria Spasticity Prolonged QT interval Abnormal facial shape Failure to thrive Strabismus Short palm Depressivity Short neck Cerebral cortical atrophy Short metatarsal Long philtrum Myopia Bulbous nose Prominent forehead Cerebellar hypoplasia Deeply set eye Gastroesophageal reflux Obesity Full cheeks Cerebral atrophy Clinodactyly Synophrys

Rare Symptoms - Less than 30% cases


Laryngeal dystonia Pes planus Hyperphosphatemia Calcinosis Hypergonadotropic hypogonadism Elevated circulating parathyroid hormone level Autoimmune antibody positivity Dyskinesia Microcornea Short phalanx of finger Hip dysplasia Hypertrichosis Abdominal symptom Intellectual disability, moderate Conjunctivitis Specific learning disability Myoclonic spasms Hypocalcemic tetany Pseudohypoparathyroidism Dyspnea Hypocalcemia Intrauterine growth retardation Small hand Conductive hearing impairment High forehead Short digit Hypothyroidism Motor delay Macroglossia Constipation Clinodactyly of the 5th finger Abnormal heart morphology Malar flattening Abnormality of the dentition Ventriculomegaly Wide nasal bridge Increased bone mineral density Feeding difficulties Skeletal muscle atrophy Dysphagia Micrognathia Growth delay Reduced tendon reflexes Sacral dimple Depressed nasal bridge Irritability Muscle cramps Chest pain Round face Growth hormone deficiency Kyphoscoliosis Cleft palate Hypogonadism Sensorimotor neuropathy High, narrow palate Broad face Thin upper lip vermilion Low urinary cyclic AMP response to PTH administration Progressive spastic paraplegia Coarse facial features Autistic behavior Gait ataxia Cerebellar vermis hypoplasia Eczema Progressive cerebellar ataxia Falls Respiratory tract infection Abnormality of the nervous system Recurrent respiratory infections EEG abnormality Hypocalcemic seizures Myoclonus Recurrent infections Pituitary resistance to thyroid hormone Behavioral abnormality Kyphosis Babinski sign Muscle weakness Optic atrophy Broad nasal tip Elevated serum creatine phosphokinase Pes cavus Muscular hypotonia Periodic paralysis Ventricular extrasystoles Abnormal T-wave Abnormal atrioventricular conduction Syncope Sudden cardiac death Torsade de pointes Lymphopenia T-wave inversion Palpitations Left bundle branch block Bronchiectasis First degree atrioventricular block Muscle fiber tubular inclusions Delayed eruption of permanent teeth Inflammatory abnormality of the skin Narrow palpebral fissure Lymphoma Sensory impairment Asthma Febrile seizures Clinodactyly of the 5th toe Neutropenia Hemolytic anemia Erythema Short mandibular rami Periodic hypokalemic paresis Effort-induced polymorphic ventricular tachycardias Vasculitis Combined immunodeficiency Leukopenia Toe syndactyly Scapular winging Retrognathia Joint laxity Broad forehead Dilated cardiomyopathy Dolichocephaly Limb muscle weakness Syndactyly Thin vermilion border Bilateral single transverse palmar creases Cardiac arrest Wide nose Hypoplasia of the maxilla Triangular face Arrhythmia Ventricular tachycardia Recurrent skin infections Vasculitis in the skin Glomerulonephritis Atopic dermatitis Short finger Severe combined immunodeficiency Allergic rhinitis Membranoproliferative glomerulonephritis Right bundle branch block Abnormal palate morphology 2-3 toe syndactyly Growth abnormality Ventricular arrhythmia Oligodontia Autoimmune neutropenia Cortical myoclonus Myotonia Short fifth metatarsal Antegonial notching of mandible Microretrognathia Depressed nasal tip Aplasia cutis congenita Spastic diplegia Flat occiput Oral-pharyngeal dysphagia Chronic otitis media Prominent supraorbital ridges Delayed gross motor development Pointed chin Thickened helices Hirsutism Joint hypermobility Long face Abnormality of eye movement Attention deficit hyperactivity disorder Sparse hair Protruding ear Postnatal growth retardation Osteopenia Gait imbalance Nasolacrimal duct obstruction Proptosis Cerebral calcification Ectopic ossification Prolactin deficiency Short 5th metacarpal Constrictive median neuropathy Short 4th metacarpal Oligomenorrhea Basal ganglia calcification Polyphagia Confusion Toenail dysplasia Osteoporosis Abnormality of the septum pellucidum Talipes cavus equinovarus Prominent protruding coccyx Broad chin Thickened ears Prominent coccyx Caesarian section Sleep-wake cycle disturbance Macrotia Pectus excavatum Bidirectional ventricular ectopy Polyneuropathy High myopia Choroid plexus calcification Bilateral sensorineural hearing impairment Dandy-Walker malformation Renal agenesis Abnormality of the skin Nail dysplasia Prominent nose Everted lower lip vermilion Small nail Downturned corners of mouth Short distal phalanx of finger Nail dystrophy Wide mouth Neonatal hypotonia Blindness Respiratory distress Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Hypsarrhythmia Short 3rd metacarpal Dystonia Reduced bone mineral density Broad distal phalanx of the thumb Tremor Downslanted palpebral fissures Cortical subperiosteal resorption of humeral metaphyses Increased bone density with cystic changes Diaphyseal sclerosis Ectopic calcification Tetany Hyperparathyroidism Renal insufficiency Abnormality of the fingernails Profound sensorineural hearing impairment Immunodeficiency Cystic renal dysplasia Hypoplasia of the iris Severe sensorineural hearing impairment Infantile spasms Anonychia Triphalangeal thumb Abnormal dermatoglyphics Prominent nasal tip Drowsiness Anemia Hip dislocation Coxa valga Muscle stiffness Short thumb Limb ataxia Progressive muscle weakness Decreased antibody level in blood Smooth philtrum Congenital cataract Muscular dystrophy Neurological speech impairment Sandal gap Pectus carinatum Rigidity Severe short stature Hypertonia Myopathy Intellectual disability, severe Flexion contracture Ptosis Swan neck-like deformities of the fingers Type I diabetes mellitus Infantile muscular hypotonia Abnormality of the cerebellar peduncle Muscle fiber necrosis Pain Abnormal aldolase level Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Metatarsus valgus Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Muscle flaccidity Autophagic vacuoles Abnormality of the metacarpal bones Avascular necrosis of the capital femoral epiphysis Mild global developmental delay Abnormality of finger Centrally nucleated skeletal muscle fibers Rimmed vacuoles External genital hypoplasia Myopathic facies Congenital muscular dystrophy Cubitus valgus Dysphonia Progressive truncal ataxia Hypermyelinated retinal nerve fibers Frontal bossing Distal amyotrophy Decreased nerve conduction velocity Absence seizures Foot dorsiflexor weakness Lower limb spasticity Intention tremor Mitral valve prolapse Urinary incontinence Abnormal cerebellum morphology Distal sensory impairment Peripheral axonal neuropathy Impaired vibratory sensation Unsteady gait Dysmetria Paraplegia Abnormality of the foot Spastic paraplegia Abnormal pyramidal sign Distal muscle weakness Difficulty walking Hyperreflexia Cone-shaped epiphysis Hammertoe Abnormal motor evoked potentials Spastic ataxia Abnormality of the pons Parietal cortical atrophy Loss of Purkinje cells in the cerebellar vermis Impaired tactile sensation Vitamin E deficiency Decreased sensory nerve conduction velocity Gaze-evoked horizontal nystagmus Scanning speech Decreased number of large peripheral myelinated nerve fibers Upper motor neuron dysfunction Decreased motor nerve conduction velocity Absent Achilles reflex Demyelinating peripheral neuropathy Impaired smooth pursuit Progressive gait ataxia Arachnoid cyst Impaired vibration sensation in the lower limbs Cerebellar vermis atrophy Progressive spasticity Urinary urgency Impotence Cryptorchidism Edema Wide nasal base Deep palmar crease Hyperacusis Mood changes Recurrent aspiration pneumonia Excessive daytime sleepiness Velopharyngeal insufficiency Everted upper lip vermilion Recurrent ear infections Cavum septum pellucidum Abnormal renal morphology Abnormality of the larynx Pelvic kidney Thick upper lip vermilion Duodenal atresia Bruxism Short attention span Chronic constipation Self-mutilation Overweight Protruding tongue Impaired pain sensation Premature atrial contractions Abnormality of upper lip Abnormality of the immune system Abnormality of the cerebral white matter Broad philtrum Relative macrocephaly Dental crowding Short palpebral fissure Apraxia Neuronal loss in central nervous system Thick vermilion border Inability to walk Talipes Camptodactyly Morphological abnormality of the middle ear Hepatosplenomegaly Absent speech Talipes equinovarus Macrocephaly Sleep-wake inversion Frequent temper tantrums Head-banging Abnormality of the forearm Midline brain calcifications Abnormal tracheobronchial morphology Broad palm Abnormality of the thyroid gland Short nose Aggressive behavior Nephropathy Oral cleft Dry skin Lethargy Microtia Paralysis Hyperlordosis Abnormality of the kidney Cleft lip Polyhydramnios Sleep disturbance Mandibular prognathia Hyperactivity Brachycephaly Upslanted palpebral fissure Posteriorly rotated ears Inguinal hernia Abnormality of metabolism/homeostasis Midface retrusion Abnormality of cardiovascular system morphology Retinal detachment Single transverse palmar crease Open bite Hoarse voice Impulsivity Self-injurious behavior Poor suck Abnormality of the urinary system Drooling Abnormality of the outer ear Hypercholesterolemia Lissencephaly Increased body weight Abnormal vertebral morphology Esotropia Sinusitis Stereotypy Heterotopia Pachygyria Omphalocele Broad-based gait Hypertriglyceridemia Decreased fetal movement Abnormality of the cardiovascular system Otitis media Osteoma cutis



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