Brachydactyly, and Pes cavus

Diseases related with Brachydactyly and Pes cavus

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


Top matches:

Medium match BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME


Related symptoms:

  • Pes cavus
  • Thin upper lip vermilion
  • Camptodactyly of finger
  • Single transverse palmar crease
  • Tall stature


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME

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

Medium match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

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Other less relevant matches:

Medium match SILLENCE SYNDROME


Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.

SILLENCE SYNDROME Is also known as synostoses, multiple, with brachydactyly|symphalangism-brachydactyly syndrome|wl syndrome|brachydactyly-symphalangism syndrome|facioaudiosymphalangism syndrome|deafness-symphalangism syndrome of herrmann

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Epicanthus
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SILLENCE SYNDROME

Medium 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

Medium match MARFAN SYNDROME TYPE 1


MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

Medium match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Medium match 15Q24 MICRODELETION SYNDROME


15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Medium 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 Pes cavus

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Delayed speech and language development Growth delay Single transverse palmar crease Frontal bossing Pes planus Small hand Behavioral abnormality Clinodactyly Hypoplasia of the corpus callosum Global developmental delay Microcephaly Motor delay Generalized hypotonia Hearing impairment Seizures Inguinal hernia Anteverted nares Hoarse voice Intrauterine growth retardation Joint laxity High palate Abnormal facial shape Interphalangeal joint contracture of finger Strabismus Ventriculomegaly Pectus excavatum Joint hypermobility Sleep disturbance Downslanted palpebral fissures Cryptorchidism Short foot Thick upper lip vermilion Obesity High forehead Short palm Hyperactivity Cerebellar vermis atrophy Aggressive behavior Camptodactyly Skeletal muscle atrophy Camptodactyly of finger Abnormal vertebral morphology Gait ataxia Abnormality of the skeletal system EEG abnormality

Rare Symptoms - Less than 30% cases


Short nose Babinski sign Cerebellar atrophy Ankylosis Wide nasal bridge Mood swings Protrusio acetabuli Broad metatarsal Thin upper lip vermilion Open bite Drooling Muscular hypotonia Ankle contracture Abnormality of the thyroid gland Cleft palate Abnormality of the thorax Pain Short lower limbs Myopia Sandal gap Malar flattening Short thumb Dilatation Difficulty walking Hernia Delayed eruption of teeth Conductive hearing impairment Wide nose Short philtrum Anxiety Dysarthria Hyperreflexia Absent distal phalanges Peripheral neuropathy Spasticity Failure to thrive Low-set ears Muscle weakness Nystagmus Ataxia Intellectual disability, mild Midface retrusion Constipation Deeply set eye Pectus carinatum Abnormality of the outer ear Chess-pawn distal phalanges Polyhydramnios Prominent nose Radial deviation of finger Cubitus valgus Upslanted palpebral fissure Posteriorly rotated ears Abnormality of cardiovascular system morphology Narrow face Underdeveloped nasal alae Dysphagia Bulbous nose Broad-based gait Aplasia of the middle phalanx of the hand Short 1st metacarpal Progressive spastic paraplegia Joint hyperflexibility Toe syndactyly Thick lower lip vermilion Intellectual disability, moderate Carpal synostosis Mandibular prognathia Micropenis Bilateral single transverse palmar creases Striae distensae Hypogonadism High anterior hairline Dysmetria Clinodactyly of the 5th finger Arachnodactyly Hypospadias Hammertoe Impaired vibratory sensation Immunodeficiency Hypertonia Intellectual disability, severe Lower limb spasticity Intention tremor Mitral valve prolapse Abnormal cerebellum morphology Depressed nasal bridge Distal amyotrophy Falls Polymicrogyria Synophrys Cataract Hypothyroidism Gait disturbance Macroglossia Kyphosis Spastic paraplegia Abnormality of the foot Osteoporosis Paraplegia Broad forehead Flexion contracture Proptosis Brachycephaly Flat acetabular roof Kyphoscoliosis Coarse facial features Low-set, posteriorly rotated ears Absent speech Narrow mouth Autism Protruding ear Postnatal growth retardation Abnormal tracheobronchial morphology Developmental regression Feeding difficulties in infancy Hypoplasia of penis Decreased testicular size Macrotia Tremor Memory impairment Muscular hypotonia of the trunk Narrow palpebral fissure Gynecomastia Macrocephaly Short neck Frequent temper tantrums Abnormality of the musculature Acanthosis nigricans Attention deficit hyperactivity disorder Abnormality of toe Truncal obesity Biparietal narrowing Cortical gyral simplification Restlessness Scaphocephaly Down-sloping shoulders Distal lower limb amyotrophy Abnormal hair pattern Tics Panhypopituitarism Abdominal obesity Abnormality of earlobe Small earlobe Moderately short stature Cortical dysplasia Hyperhidrosis Delayed puberty Neurological speech impairment Blepharophimosis Wide mouth Abnormality of the pinna Large hands Head-banging Midline brain calcifications Long philtrum Cachexia Microphthalmia Recurrent infections Relative macrocephaly Abnormality of the forearm Autistic behavior Premature atrial contractions Prominent nasal bridge Esotropia Sinusitis Stereotypy Hypoplasia of dental enamel Heterotopia Pachygyria Pelvic kidney Omphalocele Hypertriglyceridemia Decreased fetal movement Abnormality of upper lip Abnormality of the cardiovascular system Otitis media Full cheeks Lissencephaly Microcornea Retinal detachment Nephropathy Oral cleft Paresthesia Dry skin Lethargy Microtia Paralysis Hyperlordosis Abnormality of the kidney Cleft lip Increased body weight Hypercholesterolemia Cerebral cortical atrophy Bruxism Mood changes 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 Broad face Duodenal atresia Short attention span Sacral dimple Chronic constipation Self-mutilation Overweight Drowsiness Protruding tongue Impaired pain sensation Broad palm Abnormality of the immune system Impulsivity Self-injurious behavior Poor suck Abnormality of the urinary system Gastroesophageal reflux Prominent forehead Small for gestational age Small nail Cupped ear Proximal placement of thumb Abnormality of the voice Nasal speech Hyperacusis Microretrognathia Pointed chin Sparse and thin eyebrow Cafe-au-lait spot Abnormality of the genital system Open mouth Fine hair Congenital diaphragmatic hernia Slender finger Growth hormone deficiency Delayed myelination Tapered finger Highly arched eyebrow High, narrow palate Iris coloboma Thin vermilion border Long face Smooth philtrum Facial asymmetry Hypermetropia Severe global developmental delay Mild short stature Abnormality of digit Abnormal heart morphology Large fleshy ears Hyporeflexia Areflexia Abnormality of metabolism/homeostasis Abnormality of the dentition Edema Feeding difficulties Sensorineural hearing impairment Abnormality of the proximal phalanx of the thumb Medial flaring of the eyebrow Gastrointestinal atresia Conspicuously happy disposition Long palm Dysplastic corpus callosum Insomnia Anisocoria Flared nostrils Toe clinodactyly Deep plantar creases Thick nasal alae Unilateral cryptorchidism Abnormality of nervous system morphology Morphological abnormality of the middle ear Wide nasal base Thick hair Intestinal atresia Microphallus Overlapping fingers Widely spaced teeth Panic attack Generalized arterial tortuosity Arthropathy C1-C2 subluxation Contractures of the large joints Camptodactyly of toe Generalized hypertrichosis Wrist flexion contracture Delayed closure of the anterior fontanelle Generalized osteoporosis Vertebral compression fractures Antinuclear antibody positivity Hip contracture Narrow nasal bridge Severe generalized osteoporosis Abnormality of the ear Hypermelanotic macule Metaphyseal widening Osteolysis Knee flexion contracture Gingival overgrowth Thickened skin Decreased body weight Subcutaneous nodule Split hand Finger swelling Metacarpal osteolysis Hypoplasia of the maxilla Waddling gait Tarsal synostosis Short finger Anonychia Metatarsus adductus 2-3 toe syndactyly Short middle phalanx of finger Back pain Abnormal dermatoglyphics Abnormality of the nail Broad thumb Short metacarpal Metatarsal osteolysis Platyspondyly Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Thin metacarpal cortices Carpal osteolysis Hypertrichosis Hirsutism Dislocated radial head Progressive cerebellar ataxia Urinary urgency Impotence Decreased motor nerve conduction velocity Cone-shaped epiphysis Decreased nerve conduction velocity Absence seizures Foot dorsiflexor weakness Sensorimotor neuropathy Cerebellar vermis hypoplasia Urinary incontinence Distal sensory impairment Impaired vibration sensation in the lower limbs Peripheral axonal neuropathy Unsteady gait Abnormal pyramidal sign Distal muscle weakness Myoclonus Type A1 brachydactyly Distal symphalangism of hands Thoracolumbar scoliosis Broad foot Tall stature Progressive spasticity Arachnoid cyst Corneal opacity Parietal cortical atrophy Arthritis Arthralgia Osteopenia Diabetes mellitus Swan neck-like deformities of the fingers Progressive truncal ataxia Abnormality of the cerebellar peduncle Hypermyelinated retinal nerve fibers Abnormal motor evoked potentials Abnormality of the pons Loss of Purkinje cells in the cerebellar vermis Progressive gait ataxia 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 Spastic ataxia Upper motor neuron dysfunction Absent Achilles reflex Demyelinating peripheral neuropathy Impaired smooth pursuit Cutaneous finger syndactyly Short humerus Bicuspid pulmonary valve Hydrocephalus Postaxial polydactyly Dolichocephaly Abnormal cardiac septum morphology Craniosynostosis Umbilical hernia Retrognathia Polydactyly Patent ductus arteriosus Syndactyly Atrial septal defect Talipes equinovarus Bifid uvula Hyperplasia of midface Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Knee clonus Abnormal hand morphology Abnormality of brain morphology Abnormality of the nares Overbite Recurrent fractures Chest pain Speech apraxia Spondylolisthesis Spontaneous pneumothorax Descending thoracic aorta aneurysm Pulmonary artery aneurysm Ascending aortic dissection Mild myopia Dural ectasia Arterial tortuosity Thoracic aortic aneurysm Ascending tubular aorta aneurysm Dermal translucency Aortic dissection Blue sclerae Dilatation of the cerebral artery Disproportionate tall stature Myopathic facies Aortic aneurysm Ectopia lentis Arnold-Chiari malformation Bicuspid aortic valve Narrow palate Joint contracture of the hand Exotropia Dental crowding Upper limb spasticity Spastic dysarthria Spinal canal stenosis Large iliac wings Large tarsal bones Progressive conductive hearing impairment Bulbous tips of toes Hypoplastic nasal septum Cervical spinal canal stenosis Intervertebral disc degeneration Stapes ankylosis Distal symphalangism Absent distal interphalangeal creases Abnormality of the distal phalanx of finger Enlargement of the costochondral junction Fusion of midphalangeal joints Proximal symphalangism of hands Proximal symphalangism Broad metacarpals Aplasia/Hypoplasia of the middle phalanges of the hand Oval face Lower limb undergrowth Aplastic/hypoplastic toenail Short upper lip Short sternum Slender build Short hallux Hypoplastic spinal processes Abnormality of the proximal phalanges of the hand Abnormality of the thumb Clonus Dysuria Upper limb muscle weakness Premature loss of teeth Scleroderma Ankle clonus Spastic diplegia Emotional lability Abnormality of the hand Slurred speech Spastic paraparesis Spastic gait Abnormality of the proximal phalanx of the hallux Hallucinations Progressive muscle weakness Choreoathetosis Psychosis Overgrowth Specific learning disability Gliosis Lower limb muscle weakness Genu valgum Hydronephrosis Cognitive impairment Sleep-wake inversion



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