Brachydactyly, and Pes planus

Diseases related with Brachydactyly and Pes planus

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


Top matches:

Medium match MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4


Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Pain
  • Brachydactyly
  • Clinodactyly
  • Pes planus


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Medium match PROXIMAL SYMPHALANGISM


Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.

PROXIMAL SYMPHALANGISM Is also known as symphalangism, cushing type

Related symptoms:

  • Strabismus
  • Sensorineural hearing impairment
  • Brachydactyly
  • Clinodactyly of the 5th finger
  • Pes planus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SYMPHALANGISM

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

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 SMITH-MCCORT DYSPLASIA 2; SMC2


Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC ), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SMITH-MCCORT DYSPLASIA 2; SMC2

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE


Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia|semd, strudwick type|smed, type i|spondylometaepiphyseal dysplasia congenita, strudwick type|semdc|smd|smed, strudwick type|strudwick syndrome|dappled metaphysis syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57


MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

Medium match CLEIDOCRANIAL DYSPLASIA; CCD


The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.

CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd|cleidocranial dysostosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA; CCD

Medium match SPONDYLOCARPOTARSAL SYNOSTOSIS


Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.

SPONDYLOCARPOTARSAL SYNOSTOSIS Is also known as synspondylism, congenital|synspondylism|vertebral fusion with carpal coalition|scoliosis, congenital, with unilateral unsegmented bar|spondylocarpotarsal syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOCARPOTARSAL SYNOSTOSIS

Top 5 symptoms//phenotypes associated to Brachydactyly and Pes planus

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Severe short stature Midface retrusion Hypoplasia of the odontoid process Myopia Abnormality of the skeletal system Recurrent otitis media Clinodactyly Hyperlordosis Disproportionate short stature Genu valgum Tarsal synostosis Otitis media Seizures Sensorineural hearing impairment Cleft palate Joint laxity Abnormal facial shape

Rare Symptoms - Less than 30% cases


Lumbar hyperlordosis Short metacarpal Short metatarsal Limited elbow extension Frontal bossing Cone-shaped epiphyses of the phalanges of the hand Thoracolumbar kyphosis Skeletal dysplasia Broad metatarsal Short phalanx of finger Mandibular prognathia Broad phalanx Pain Short femoral neck Delayed pubic bone ossification Coxa vara Increased bone mineral density Hernia Respiratory distress Talipes equinovarus Disproportionate short-trunk short stature Broad nasal tip Metaphyseal irregularity Limb undergrowth Platyspondyly Pectus carinatum Hypertrichosis Posteriorly rotated ears Short neck Hypoplasia of dental enamel Short nose Joint hypermobility Strabismus Clinodactyly of the 5th finger Global developmental delay Finger clinodactyly Carpal synostosis Autistic behavior Narrow mouth Autism Large forehead Mixed hearing impairment Thin upper lip vermilion Anxiety Restrictive ventilatory defect Telecanthus Abnormality of pelvic girdle bone morphology Mesomelia Epiphyseal dysplasia Hyperactivity Preauricular skin tag Craniosynostosis Blepharophimosis Attention deficit hyperactivity disorder Abnormal vertebral morphology Abnormality of retinal pigmentation Abnormality of the ribs Round face Renal cyst Broad face Delayed ossification of carpal bones Upslanted palpebral fissure Microcephaly Short nasal septum Spondyloepimetaphyseal dysplasia Anterior rib cupping Hypoplastic pubic bone Narrow greater sacrosciatic notches Bowed humerus Cervical spine instability C1-C2 subluxation Club-shaped proximal femur Metaphyseal dappling Generalized hypotonia Ptosis Constipation Flexion contracture High palate Capitate-hamate fusion Block vertebrae Feeding difficulties Basilar impression Platybasia Delayed speech and language development Epicanthus Diarrhea Microtia Abnormality of the kidney Long face Prominent nasal bridge Neonatal respiratory distress Intellectual disability, moderate Narrow chest High, narrow palate Delayed eruption of teeth Dental malocclusion Parietal foramina Large fontanelles Short ribs Wormian bones Increased susceptibility to fractures Cone-shaped epiphysis Thickened calvaria Delayed eruption of primary teeth Increased number of teeth Short clavicles Syringomyelia Abnormality of the clavicle Hypoplastic scapulae Delayed eruption of permanent teeth Hypoplastic iliac wing Osteolytic defects of the phalanges of the hand Spondylolisthesis Short middle phalanx of the 5th finger Aplastic clavicle Malar flattening Protuberant abdomen Cervical ribs Absent paranasal sinuses Delayed skeletal maturation Cataract Abnormal facility in opposing the shoulders Hoarse voice Pointed chin Long second metacarpal Obsessive-compulsive behavior Toe walking Hyperventilation Persistent open anterior fontanelle Wide pubic symphysis Microtia, first degree Absent frontal sinuses Short middle phalanx of the 2nd finger Tall chin Growth delay Micrognathia Large foramen magnum Spondylolysis Moderately short stature Depressed nasal bridge Hypoplastic frontal sinuses Parietal bossing Abnormality of the dentition Delayed epiphyseal ossification Arthralgia of the hip Abnormality of the sternum Ectodermal dysplasia Elbow ankylosis Proximal symphalangism Abnormal finger flexion creases Proximal/middle symphalangism of 5th finger Metacarpophalangeal synostosis High forehead Deeply set eye Nail dystrophy Dolichocephaly Toe syndactyly Short distal phalanx of finger Nail dysplasia Synostosis of carpal bones Hypotelorism Bilateral sensorineural hearing impairment Small nail Gingival overgrowth Oligodontia Reduced number of teeth Abnormality of the hand Triphalangeal thumb Congenital sensorineural hearing impairment Anonychia Agenesis of permanent teeth Abnormality of the wrist Elbow dislocation Aplasia cutis congenita Scarring Conductive hearing impairment Abnormality of the foot Overlapping toe Broad foot Otosclerosis Synostosis of carpals/tarsals Progressive conductive hearing impairment Fever Edema Immunodeficiency Thrombocytopenia Autoimmunity Abnormality of the metacarpal bones Everted lower lip vermilion Bifid uvula Inflammatory abnormality of the skin Subcutaneous nodule Vasculitis Combined immunodeficiency Episodic fever Recurrent viral infections Periorbital edema Lymphadenitis Camptodactyly of finger Finger syndactyly Abnormality of digit Severe sensorineural hearing impairment Short thorax Inguinal hernia Decreased body weight Rhizomelia Barrel-shaped chest Hypoplastic pelvis Myelopathy Broad femoral neck Flattened epiphysis Atlantoaxial instability Small forehead Flattened femoral head Gait disturbance Osteopenia Small hand Micromelia Flat face Retinal detachment Osteoarthritis Abnormality of the metaphysis Abnormality of epiphysis morphology Hemangioma Short long bone Genu varum Abnormality of the urinary system Spondyloepiphyseal dysplasia Limitation of joint mobility Arthralgia Conical tooth Growth abnormality High-frequency hearing impairment Hypoplasia of teeth Selective tooth agenesis Anhidrotic ectodermal dysplasia Absent toenail Hidrotic ectodermal dysplasia Bilateral triphalangeal thumbs Prominent forehead Falls Short toe Hypoplasia of the radius Flared metaphysis Coarse facial features Radial bowing Beaking of vertebral bodies Ovoid vertebral bodies Long hallux Short nail Broad finger Broad metacarpals Acromesomelia Lower thoracic kyphosis Thoracolumbar interpediculate narrowness Redundant skin on fingers Kyphoscoliosis C2-C3 subluxation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Nephritis, related diseases and genetic alterations Myopia and Carious teeth, related diseases and genetic alterations Macrocephaly and Optic atrophy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more