Brachydactyly, and Tetraparesis

Diseases related with Brachydactyly and Tetraparesis

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


Top matches:

Medium match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Medium match X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE


X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Medium match MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME


Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

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Other less relevant matches:

Medium match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Medium match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Medium match OCULODENTODIGITAL DYSPLASIA


Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

Medium match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Medium match SCLEROSTEOSIS 2; SOST2


Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Medium match ANAUXETIC DYSPLASIA 1; ANXD1


Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

Low match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Tetraparesis

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

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

Common Symptoms - More than 50% cases


Abnormality of the skeletal system

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Delayed speech and language development Generalized hypotonia Mandibular prognathia Abnormal facial shape Clinodactyly Epicanthus Growth delay Strabismus Ventriculomegaly Clinodactyly of the 5th finger Hypoplasia of the corpus callosum Cleft palate Scoliosis Spastic tetraparesis Frontal bossing Micrognathia Optic atrophy Midface retrusion Gait disturbance Muscle weakness Ataxia High palate Low-set ears Cerebral cortical atrophy Gait ataxia Ventricular septal defect Gastroesophageal reflux Pain Wide nasal bridge Aggressive behavior Anemia Cognitive impairment Depressed nasal bridge Short nose Cataract Severe global developmental delay Poor speech Spinal canal stenosis Macrocephaly Hydrocephalus Conductive hearing impairment Abnormal form of the vertebral bodies Hyperlordosis Overgrowth Decreased body weight Failure to thrive Malar flattening Syndactyly Delayed skeletal maturation Blepharophimosis Short toe Kyphosis Wide anterior fontanel Spasticity Feeding difficulties Hypoplasia of the maxilla

Rare Symptoms - Less than 30% cases


Neoplasm Arrhythmia Abnormality of the nervous system Abnormality of the dentition Congestive heart failure Obesity Short finger Short phalanx of finger Intellectual disability, mild Bicuspid aortic valve Hyperreflexia Kyphoscoliosis Loss of consciousness Hypodontia Tetraplegia Short palpebral fissure Slender long bone Toe syndactyly Hypoplasia of dental enamel Facial asymmetry Short foot Delayed eruption of teeth Short metacarpal Flexion contracture Coarctation of aorta Abnormal heart valve morphology Abnormal diaphysis morphology Joint hyperflexibility Hypotrichosis Aplasia/Hypoplasia of the corpus callosum Mitral regurgitation Dilated cardiomyopathy Neurological speech impairment Feeding difficulties in infancy Cardiomyopathy Downslanted palpebral fissures Muscular hypotonia Abnormality of the cerebral white matter Cleft upper lip Self-injurious behavior Hypotelorism Abnormality of vision Hand polydactyly Aplasia/Hypoplasia of the cerebellum Hyperostosis Progressive spasticity High hypermetropia Metaphyseal dysplasia Premature loss of primary teeth Abnormality of the pinna Anteriorly placed anus Oral cleft Myelopathy Lumbar hyperlordosis Abnormality of the metaphysis Rhizomelia Paraparesis Sensorineural hearing impairment Infantile muscular hypotonia Flared metaphysis Disproportionate short stature Neuroblastoma Cervical cord compression Abnormality of the eye Nystagmus Visual impairment Myopia Dental malocclusion Atrial septal defect Abnormality of cardiovascular system morphology Upslanted palpebral fissure Delayed closure of the anterior fontanelle Deeply set eye Camptodactyly Sleep apnea Camptodactyly of finger Small for gestational age Constipation Stereotypy Paralysis Delayed myelination Absent speech Muscular hypotonia of the trunk Wide nose Short distal phalanx of finger Neonatal hypotonia Mental deterioration Ventricular hypertrophy Thin upper lip vermilion Long nose EEG abnormality Macrotia Visual loss Open mouth Hypothyroidism Autism Myopathy Hypsarrhythmia Patent foramen ovale Single transverse palmar crease Underdeveloped nasal alae Coarse hair Short 5th finger Small nail Ptosis Cerebral atrophy Hypermelanotic macule Polyphagia Macule Self-mutilation Infantile spasms Abnormality of the immune system Foot polydactyly Absent septum pellucidum Abnormal lung lobation Telangiectasia of the skin Jaundice Congenital hypothyroidism Submucous cleft hard palate Arnold-Chiari type I malformation Aortic root aneurysm Overweight Hiatus hernia Epileptic spasms Abnormal hair whorl Abnormal eyebrow morphology Rod-cone dystrophy Lambdoidal craniosynostosis Impaired social interactions Abnormal corpus callosum morphology Periventricular leukomalacia Cavum septum pellucidum Abnormality of chromosome stability Biliary tract abnormality Abnormal left ventricle morphology Abnormal renal physiology Colpocephaly Thickened helices Rib fusion Abnormality of the spleen Coronal craniosynostosis Left ventricular noncompaction Redundant neck skin Volvulus Delayed CNS myelination Dilation of lateral ventricles Abnormality of the testis 11 pairs of ribs Abnormality of the neck Lower limb asymmetry Optic nerve coloboma Abnormality of the gastrointestinal tract Missing ribs Ocular albinism Dysphasia Failure to thrive in infancy Delayed cranial suture closure Abnormality of the kidney Bifid uvula Renal cyst Hepatic steatosis Polymicrogyria Synophrys Hypermetropia Muscular dystrophy Microtia Abnormal cardiac septum morphology Coloboma Abnormality of the liver Joint stiffness Retinal dystrophy Low-set, posteriorly rotated ears Intestinal malrotation Hydronephrosis Narrow mouth Micropenis Brachycephaly Hypogonadism Prominent forehead Posteriorly rotated ears Pes cavus Agenesis of corpus callosum Patent ductus arteriosus Hypospadias Long philtrum Hemolytic anemia Behavioral abnormality Brain atrophy Abnormality of the skin Metatarsus adductus Narrow palpebral fissure Hemiplegia/hemiparesis Congenital sensorineural hearing impairment Clitoral hypertrophy Hepatosplenomegaly Abnormality of the mandible Pyloric stenosis Delayed gross motor development Scrotal hypoplasia Sacral dimple Myalgia Leukoencephalopathy Hypercholesterolemia Cranial nerve paralysis Abnormal intestine morphology Generalized hirsutism Hip dysplasia Pointed chin Telangiectasia Large fontanelles Heterotopia Pachygyria Hypertrichosis Depressed nasal ridge Interphalangeal joint contracture of finger Abnormality of the ribs Optic disc pallor Hypoplasia of penis Tetralogy of Fallot Abnormal blistering of the skin Epileptic encephalopathy Abnormality of female external genitalia Horizontal eyebrow Gastric ulcer Cerebellar vermis hypoplasia Cutis marmorata Large hands Abnormality of dental morphology Prominent supraorbital ridges Redundant skin Schizophrenia Widely spaced teeth Cutis laxa Narrow palate Coxa valga Abnormality of the hair Abnormality of retinal pigmentation Thick lower lip vermilion Psychosis Emphysema Tapered finger Highly arched eyebrow Everted lower lip vermilion Thick vermilion border Thick eyebrow Joint hypermobility Pectus carinatum Wide mouth Protruding ear Telecanthus Pes planus Coarse facial features Inguinal hernia Abnormality of neuronal migration Broad hallux Hypertonia Thick nasal alae Abnormality of the nasal alae Thick nasal septum Bifid sternum Uterine prolapse Lumbar kyphosis Retinoschisis Pseudoepiphyses of the metacarpals Stooped posture Cataplexy Hyperconvex fingernails Abnormal tricuspid valve morphology Broad finger Narrow iliac wings Rectal prolapse Abnormality of digit Hyperextensibility of the finger joints Advanced eruption of teeth Abnormal aortic valve morphology Craniofacial hyperostosis Abnormal mitral valve morphology Restrictive cardiomyopathy Hypoplastic fingernail Acrocyanosis Soft skin Severe sensorineural hearing impairment Atonic seizures Thickened calvaria Broad palm Pectus excavatum Intellectual disability, severe Abnormality of the anus Oppositional defiant disorder Abnormality of the renal pelvis Abnormality of the cerebral ventricles Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Bifid ribs Hypoplastic female external genitalia Abnormality of the hairline Asymmetry of the ears Agenesis of the anterior commissure Noncompaction cardiomyopathy Cranial nerve VI palsy Abnormal social behavior Talipes valgus Abnormal external genitalia Dysphagia Hypoplastic labia minora Muscle flaccidity Annular pancreas Aortic arch aneurysm Abnormality of brain morphology Expressive language delay Abnormality of the optic disc Solitary renal cyst Facial palsy Skeletal muscle atrophy Rocker bottom foot Peripheral neuropathy Hypoplastic iliac body Cervical subluxation Broad phalanx Atlantoaxial dislocation J-shaped sella turcica Shallow acetabular fossae Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Small epiphyses Hypoplastic ilia Ovoid vertebral bodies Thoracic kyphosis Metaphyseal irregularity Nail dysplasia Metaphyseal widening Elbow flexion contracture Aortic valve stenosis Fatigue Platyspondyly Splenomegaly Renal insufficiency Respiratory insufficiency Short neck Sclerotic vertebral endplates Cutaneous finger syndactyly Encephalopathy Increased intracranial pressure Muscle cramps Joint contracture of the 5th finger Migraine Leukemia Status epilepticus Recurrent otitis media Osteoarthritis Epidermal acanthosis Postnatal microcephaly Otitis media Lymphoma Sleep disturbance Finger clinodactyly Confusion Micromelia Absence seizures Scarring Recurrent urinary tract infections Drooling Apnea Cleft lip Tented upper lip vermilion Rigidity Arthralgia Skeletal dysplasia Weight loss Severe short stature Abnormality of the musculature Poor eye contact Protruding tongue Shawl scrotum Abnormal lung morphology Clonus Hypertension Bowel incontinence Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Urinary incontinence Hip contracture Round face Myeloid leukemia Tibial bowing Limited elbow extension Short femoral neck Nephrotic syndrome Esotropia Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Back pain Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Disproportionate short-limb short stature Short long bone Generalized-onset seizure Narrow forehead Acanthosis nigricans Central hypothyroidism Motor delay Upper airway obstruction Short palm Cardiac arrest Downturned corners of mouth Palpitations Renal hypoplasia Vesicoureteral reflux Specific learning disability Sloping forehead Syncope Triangular face Oligohydramnios Small hand Inability to walk Bulbous nose Scapular winging Tachycardia Pulmonic stenosis Progressive microcephaly Broad forehead Joint laxity Cortical gyral simplification Long palpebral fissure Depressivity Central hypotonia Right ventricular hypertrophy Capillary malformation Respiratory distress Hemiclonic seizures Short chin Ventricular tachycardia Intrauterine growth retardation Scaphocephaly Prominent U wave Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Periodic hyperkalemic paralysis Short mandibular rami Periodic hypokalemic paresis Clinodactyly of the 5th toe Toe clinodactyly Delayed eruption of permanent teeth Persistence of primary teeth Periodic paralysis Hyperthyroidism Oligodontia Myoclonus Agenesis of permanent teeth Prolonged QT interval Hyperkalemia High pitched voice Intellectual disability, moderate 2-3 toe syndactyly Preauricular pit Myotonia Hypokalemia Short metatarsal Growth abnormality Ventricular arrhythmia Communicating hydrocephalus Dysuria Cryptorchidism Basal ganglia calcification Retinal dysplasia Low hanging columella Fragile nails Taurodontia Abnormality of the clavicle Hypoparathyroidism Narrow nose Median cleft lip External ear malformation Premature loss of teeth Hyperactive deep tendon reflexes Curly hair Emotional lability Short hallux Aphasia Narrow nasal bridge Rhabdomyolysis Abnormality of the ear Non-midline cleft lip Acute kidney injury Preaxial hand polydactyly Reticulocytosis Cubitus valgus Progressive encephalopathy Brittle hair Preaxial polydactyly Bilateral ptosis Mild global developmental delay Abnormal cortical bone morphology Myoglobinuria Cranial hyperostosis Exercise intolerance Hyperbilirubinemia Thin anteverted nares Vertebral hyperostosis 4-5 finger syndactyly Abnormality iris morphology Tooth abscess 3-4 toe syndactyly Hyperintensity of cerebral white matter on MRI Optic nerve dysplasia Aplasia/Hypoplasia of the middle phalanges of the hand Fever Madelung deformity Abnormality of the nose Broad alveolar ridges Progressive spastic paraparesis Narrow nasal ridge Purpura Hemiplegia Pseudohypoparathyroidism Selective tooth agenesis Broad columella Trichorrhexis nodosa Short middle phalanx of the 5th finger Dry hair Slow-growing hair Neurogenic bladder Reduced number of teeth Abnormality of the fingernails Central apnea Small foramen magnum Dysarthria Autistic behavior Short philtrum Prominent nasal bridge Thin vermilion border Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Iritis Edema Hypopnea Obstructive lung disease Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Generalized myoclonic seizures Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Abnormality of femur morphology Postnatal growth retardation Blindness Abnormality of dental enamel Paraplegia Spastic paraparesis Abnormality of the nail Lymphedema Dental crowding Fine hair Decreased mean corpuscular volume Cerebral calcification Microdontia Microcornea Palmoplantar keratoderma Flat face Increased muscle fatiguability Paresthesia Carious teeth Microphthalmia Recurrent myoglobinuria Exercise-induced muscle cramps Spastic paraplegia Hip dislocation Finger syndactyly Exercise-induced myoglobinuria Sparse hair Hyperactivity Hypoglycemia Umbilical hernia High forehead Polydactyly Glaucoma Drumstick terminal phalanges



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Microtia, related diseases and genetic alterations Arthritis and Nephropathy, related diseases and genetic alterations Abnormality of the skeletal system and Platyspondyly, related diseases and genetic alterations Intrauterine growth retardation and Respiratory insufficiency, related diseases and genetic alterations Skeletal muscle atrophy and Abdominal pain, related diseases and genetic alterations Seizures and Cognitive impairment, related diseases and genetic alterations

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