Brachydactyly, and Falls

Diseases related with Brachydactyly and Falls

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


Top matches:

Medium match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM


The Maroteaux type of mesomelic sysplasia is an autosomal recessive disorder characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000).

ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM Is also known as st. helena dysplasia

Related symptoms:

  • Brachydactyly
  • Frontal bossing
  • Short nose
  • Severe short stature
  • Prominent forehead


SOURCES: OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM

Medium match ALOPECIA-INTELLECTUAL DISABILITY SYNDROME


Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME Is also known as perniola-krajewska-carnevale syndrome|amr syndrome|apmr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALOPECIA-INTELLECTUAL DISABILITY 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

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Other less relevant matches:

Medium match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Medium match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS 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

Low match AL-RAQAD SYNDROME; ARS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE


Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE Is also known as smd, kozlowski type

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE


Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE Is also known as spondylodysplasia and premature pubarche|semd, pakistani type|spondyloepimetaphyseal dysplasia, pakistani type

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Gait disturbance
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE

Low match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1


Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 Is also known as med1|edm1|multiple epiphyseal dysplasia, comp-related|polyepiphyseal dysplasia type 1

Related symptoms:

  • Short stature
  • Brachydactyly
  • Gait disturbance
  • Severe short stature
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

Top 5 symptoms//phenotypes associated to Brachydactyly and Falls

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures EEG abnormality Gait disturbance Deeply set eye Short femoral neck Hearing impairment Generalized hypotonia Micrognathia Short palm Clinodactyly Short nose Short metacarpal Cryptorchidism Progressive spastic paraplegia Motor delay Global developmental delay

Rare Symptoms - Less than 30% cases


Abnormality of the foot Strabismus Spastic paraplegia Frontal bossing Pes cavus Babinski sign Spasticity Hypoplasia of the corpus callosum Enlarged joints Hyperreflexia Peripheral neuropathy Behavioral abnormality Unsteady gait Paraplegia Pain Malar flattening Clinodactyly of the 5th finger Posteriorly rotated ears Brachycephaly Short neck Polyhydramnios Intrauterine growth retardation Paralysis Cataract Kyphoscoliosis Platyspondyly Bowing of the legs Cleft palate Genu valgum Limitation of joint mobility Waddling gait Osteoarthritis Small hand Hypertelorism Genu varum Epiphyseal dysplasia Ataxia Nystagmus Abnormality of cardiovascular system morphology Abnormal facial shape Short phalanx of finger Flared metaphysis Low-set ears Ovoid vertebral bodies Intellectual disability, moderate Aggressive behavior Growth abnormality Thin upper lip vermilion Mandibular prognathia High forehead Hypoplasia of the radius Upslanted palpebral fissure Flexion contracture Intellectual disability, severe Intellectual disability, mild Prominent nasal bridge Prominent forehead High palate Delayed skeletal maturation Absent speech Joint laxity Macrotia Sandal gap Pes planus Skeletal dysplasia Delayed epiphyseal ossification Severe short stature Irregular vertebral endplates Myopia Delayed speech and language development Intellectual disability, progressive Decreased fetal movement Poor suck Abnormality of the urinary system Hypertriglyceridemia Self-injurious behavior Hypercholesterolemia Sacral dimple Drooling Abnormality of the outer ear Broad-based gait Lissencephaly Increased body weight Omphalocele Pachygyria Heterotopia Hoarse voice Hypoplasia of dental enamel Abnormal vertebral morphology Stereotypy Abnormality of the cardiovascular system Sinusitis Paresthesia Otitis media Ventriculomegaly Abnormal heart morphology Hyporeflexia Areflexia Obesity Abnormality of metabolism/homeostasis Midface retrusion Abnormality of the dentition Edema Anteverted nares Wide nasal bridge Constipation Epicanthus Feeding difficulties Sensorineural hearing impairment Failure to thrive Premature separation of centromeric heterochromatin Midface capillary hemangioma Tetraphocomelia Mesomelic arm shortening Progressive flexion contractures Inguinal hernia Hyperactivity Esotropia Open bite Full cheeks Macroglossia Microcornea Delayed eruption of teeth Single transverse palmar crease Sleep disturbance Retinal detachment Nephropathy Oral cleft Dry skin Cerebral cortical atrophy Synophrys Lethargy Microtia Hyperlordosis Abnormality of the kidney Cleft lip Anxiety Conductive hearing impairment Gastroesophageal reflux Hypothyroidism Impulsivity Recurrent ear infections Abnormality of the thyroid gland Aplastic clavicle Secondary amenorrhea Acne Amenorrhea Hirsutism Irregular, rachitic-like metaphyses Severe carpal ossification delay Irregular acetabular roof Caudal appendage Carpal bone hypoplasia Lower limb undergrowth Spondylometaphyseal dysplasia Abnormality of the rib cage Flared iliac wings Disproportionate short-trunk short stature Flat acetabular roof Hypoplasia of the odontoid process Abnormal joint morphology Short thorax Coxa vara Spondyloepimetaphyseal dysplasia Lumbar scoliosis Abnormality of the face Multiple epiphyseal dysplasia Short fourth metatarsal Premature osteoarthritis Pseudoepiphyses Hip osteoarthritis Broad femoral neck Small epiphyses Irregular epiphyses Avascular necrosis of the capital femoral epiphysis Generalized joint laxity Premature pubarche Mild short stature Spondyloepiphyseal dysplasia Disproportionate short-limb short stature Joint dislocation Hip dysplasia Round face Micromelia Joint stiffness Arthralgia Abnormality of epiphysis morphology Narrow chest Abnormality of the immune system Thick upper lip vermilion Velopharyngeal insufficiency Everted upper lip vermilion Facial hemangioma Cavum septum pellucidum Abnormal renal morphology Deep palmar crease Abnormality of the larynx Broad face Duodenal atresia Recurrent aspiration pneumonia Bruxism Short attention span Chronic constipation Self-mutilation Overweight Drowsiness Protruding tongue Impaired pain sensation Broad palm Excessive daytime sleepiness Mood changes Pectus carinatum Narrow mouth Kyphosis Depressed nasal bridge Hyperplasia of the maxilla Hypopigmentation of the skin Inability to walk Flat face Abnormal cardiac septum morphology Neonatal hypotonia Sleep-wake inversion Hyperacusis Frequent temper tantrums Head-banging Abnormality of the forearm Midline brain calcifications Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Premature atrial contractions Absent earlobe Myocardial infarction Complete duplication of thumb phalanx Lower limb spasticity Decreased motor nerve conduction velocity Hammertoe Impaired vibratory sensation Cone-shaped epiphysis Decreased nerve conduction velocity Absence seizures Foot dorsiflexor weakness Sensorimotor neuropathy Intention tremor Urinary urgency Cerebellar vermis hypoplasia Mitral valve prolapse Urinary incontinence Progressive cerebellar ataxia Abnormal cerebellum morphology Distal sensory impairment Distal amyotrophy Peripheral axonal neuropathy Impotence Progressive spasticity Abnormal pyramidal sign Gaze-evoked horizontal nystagmus 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 Vitamin E deficiency Decreased sensory nerve conduction velocity Scanning speech Cerebellar vermis atrophy Decreased number of large peripheral myelinated nerve fibers Spastic ataxia Upper motor neuron dysfunction Absent Achilles reflex Demyelinating peripheral neuropathy Impaired smooth pursuit Progressive gait ataxia Arachnoid cyst Impaired vibration sensation in the lower limbs Dysmetria Distal muscle weakness Progressive truncal ataxia Long hallux Thoracolumbar interpediculate narrowness Lower thoracic kyphosis Acromesomelia Broad metacarpals Broad phalanx Broad metatarsal Broad finger Short nail Thoracolumbar kyphosis Muscular hypotonia Beaking of vertebral bodies Radial bowing Cone-shaped epiphyses of the phalanges of the hand Disproportionate short stature Limited elbow extension Short metatarsal Short toe Lumbar hyperlordosis Redundant skin on fingers Alopecia Difficulty walking Short corpus callosum Gait ataxia Myoclonus Cerebellar atrophy Abnormality of the skeletal system Dysphagia Skeletal muscle atrophy Dysarthria Muscle weakness Abnormality of skeletal morphology Hyperhidrosis Abnormal nasal morphology Alopecia universalis Sparse body hair Aplasia/Hypoplasia of the eyebrow Hypergonadotropic hypogonadism Split hand Sparse scalp hair Ichthyosis Photophobia Abnormality of the cerebellar peduncle Swan neck-like deformities of the fingers Aplasia of the ulna Short thumb Polycystic kidney dysplasia Melanoma Hemangioma Opacification of the corneal stroma Wormian bones Knee flexion contracture Bilateral single transverse palmar creases Aortic valve stenosis Bowing of the long bones Clitoral hypertrophy Hemiparesis Blue sclerae Underdeveloped nasal alae Premature birth Chest pain Cleft upper lip Hypotrichosis Finger syndactyly Radioulnar synostosis Proximal placement of thumb Sparse hair Low hanging columella Wrist flexion contracture Humeroradial synostosis Phocomelia Long penis Subvalvular aortic stenosis Patellar aplasia Abnormality of the upper limb Fair hair Capillary hemangioma Radial deviation of finger Upper limb undergrowth Severe intrauterine growth retardation External ear malformation Synostosis of carpal bones Underdeveloped supraorbital ridges Absent radius Hip contracture Aplasia/Hypoplasia of the thumb Absent thumb Corneal opacity Craniosynostosis Cognitive impairment Smooth philtrum Decreased body weight Interphalangeal joint contracture of finger Decreased testicular size Hypoplasia of the maxilla Tapered finger Short foot High, narrow palate Short distal phalanx of finger Poor speech Lower limb hyperreflexia Hypermetropia Camptodactyly of finger Protruding ear Autism Micropenis Pectus excavatum Talipes equinovarus Macrocephaly Large hands Multiple cafe-au-lait spots Postnatal growth retardation Neoplasm Retrognathia Proptosis Glaucoma Thrombocytopenia Dilatation Microphthalmia Congestive heart failure Downslanted palpebral fissures Talipes calcaneovarus Restlessness Small forehead Low frustration tolerance Lower limb hypertonia Alopecia areata Diastema Furrowed tongue Shuffling gait Distal lower limb amyotrophy Facial hypotonia Limited hip movement



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