Brachydactyly, and Recurrent fractures

Diseases related with Brachydactyly and Recurrent fractures

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


Top matches:

Medium match GRANGE SYNDROME


Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Medium match INFANTILE SYSTEMIC HYALINOSIS


Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Medium match COLE-CARPENTER SYNDROME


Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

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Other less relevant matches:

Medium match ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME


Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

Medium match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Medium match CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Medium match OSTEOCRANIOSTENOSIS


Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

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

Low match ACROOSTEOLYSIS DOMINANT TYPE


Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Low match WOLCOTT-RALLISON SYNDROME


Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Recurrent fractures

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Osteoporosis Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Osteopenia Common - Between 50% and 80% cases
Wormian bones Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Hydrocephalus Macrocephaly Skeletal dysplasia Failure to thrive Frontal bossing Global developmental delay Increased susceptibility to fractures Growth delay Kyphosis Midface retrusion Proptosis Blue sclerae Craniosynostosis Severe short stature Abnormal facial shape Pain Cleft palate Delayed eruption of teeth Thin vermilion border Depressed nasal bridge Intrauterine growth retardation High palate Hearing impairment Hepatomegaly Abnormality of the dentition Brachycephaly Coarse facial features Abnormality of epiphysis morphology Decreased skull ossification Bowing of the long bones Intellectual disability Patent ductus arteriosus Muscular hypotonia

Rare Symptoms - Less than 30% cases


Prominent forehead Anemia Renal insufficiency Abnormality of the skeletal system Shallow orbits Splenomegaly Hypoplasia of the zygomatic bone Malar flattening Sleep apnea Abnormality of the voice Open bite Ventricular septal defect High forehead Short palm Abnormality of the metaphysis Arnold-Chiari malformation Abnormality of pelvic girdle bone morphology Abnormality of the ribs Abnormality of dental enamel Abnormal heart morphology Short neck Clinodactyly Syndactyly Dilatation Growth abnormality Recurrent respiratory infections Slender long bone Abnormality of the skin Hypoplasia of the maxilla Hypermetropia Joint hyperflexibility Broad forehead Genu valgum Absent frontal sinuses Retrognathia Striae distensae Osteolytic defects of the phalanges of the hand Delayed skeletal maturation Microphthalmia Hepatosplenomegaly Microdontia Hyperlordosis Narrow palate Pectus carinatum Abnormality of dental morphology Seizures Microcephaly Steatorrhea Short toe Bone pain Narrow chest Motor delay Prominent occiput Thickened skin Anteverted nares Micromelia Umbilical hernia Hypospadias Dolichocephaly Short distal phalanx of finger Osteolysis Carious teeth Abnormality of the fingernails Myopia Bicuspid aortic valve Edema Joint stiffness Generalized hypotonia Downslanted palpebral fissures Hernia Spondylolisthesis Low-set ears Inguinal hernia Skin ulcer Peripheral neuropathy Abnormality of cardiovascular system morphology Wide nasal bridge Iris coloboma Wide nose Long philtrum Headache Narrow mouth Short hallux Thick eyebrow Dry skin Cloverleaf skull Delayed puberty Synophrys Telecanthus Generalized arterial tortuosity Arthralgia Cataract Camptodactyly Bicuspid pulmonary valve Dental crowding Overtubulated long bones Hypoplastic spleen Talipes equinovarus Atrial septal defect Pectus excavatum Pes cavus Polydactyly Exotropia Mitral valve prolapse Joint contracture of the hand Chest pain Bifid uvula Postaxial polydactyly Joint hypermobility Arachnodactyly Abnormal cardiac septum morphology Pes planus Joint laxity Thin clavicles Aplasia/hypoplasia of the extremities Spontaneous pneumothorax Ascending tubular aorta aneurysm Descending thoracic aorta aneurysm Pulmonary artery aneurysm Absent distal phalanges Ascending aortic dissection Mild myopia Protrusio acetabuli Dural ectasia Arterial tortuosity Dermal translucency Ankyloglossia High anterior hairline Aortic dissection Dilatation of the cerebral artery Disproportionate tall stature Myopathic facies Aortic aneurysm Ectopia lentis Lethal skeletal dysplasia Thoracic aortic aneurysm Gait disturbance Downturned corners of mouth Insulin-resistant diabetes mellitus Multiple epiphyseal dysplasia Acute hepatic failure Barrel-shaped chest Renal tubular dysfunction Cone-shaped epiphyses of the phalanges of the hand Ketoacidosis Irregular vertebral endplates Overweight Exocrine pancreatic insufficiency Small epiphyses Hypoplasia of the odontoid process Hyperuricemia Glycosuria Neurodevelopmental delay Short thorax Abnormality of neuronal migration Spondyloepiphyseal dysplasia Preauricular pit Thin bony cortex Enlarged thorax Epiphyseal dysplasia Shortening of all middle phalanges of the fingers Irregular tarsal ossification Intracerebral periventricular calcifications Ivory epiphyses of the phalanges of the hand Abnormality of pancreas morphology Reduced pancreatic beta cells Irregular carpal bones Bilateral coxa valga Transient neonatal diabetes mellitus Chronic hepatic failure Carpal bone hypoplasia Atlantoaxial dislocation Decreased hip abduction Hip subluxation Pancreatic hypoplasia Central hypothyroidism Flattened epiphysis Narrow iliac wings Thoracolumbar kyphosis Hyperglycemia Type I diabetes mellitus Full cheeks Periodontitis Spasticity Partial absence of toe Hypoplastic 5th lumbar vertebrae Rough bone trabeculation Abnormality of the mandible Platybasia Biconcave vertebral bodies Mitral stenosis Abnormality of the skull Radial bowing Patellar dislocation Multiple renal cysts Syringomyelia Coarse hair Generalized hirsutism Low anterior hairline Aortic valve stenosis Intestinal malrotation Epicanthus Diarrhea Coxa valga Hip dislocation Hepatitis Dehydration Triangular face Coma Neutropenia Nephropathy Hepatic failure Platyspondyly Irritability Hypertonia Elevated hepatic transaminase Hypoglycemia Jaundice Acidosis Hypothyroidism Weight loss Diabetes mellitus Upslanted palpebral fissure Obesity Asplenia Coxa vara Severe intrauterine growth retardation Multiple suture craniosynostosis Hyperkeratosis Alopecia Respiratory insufficiency Flexion contracture Sensorineural hearing impairment Orbital craniosynostosis Crumpled long bones Severe hydrops fetalis Sparse hair Vertebral compression fractures Communicating hydrocephalus Coronal craniosynostosis Turricephaly Central hypotonia Hyperthyroidism Pathologic fracture Kyphoscoliosis Scarring Hydrops fetalis Long nose Cognitive impairment Thin calvarium Narrow philtrum Increased thyroid-stimulating hormone level Narrow nose Prematurely aged appearance Lipoatrophy Delayed cranial suture closure Prominent nasal bridge Flat occiput Pterygium Dermal atrophy Cachexia Thin skin Fine hair Hypotelorism High pitched voice Abnormal form of the vertebral bodies Postural instability Cutaneous syndactyly Renal artery stenosis Coronary artery stenosis Intellectual disability, borderline Arterial stenosis Gastritis Perimembranous ventricular septal defect Cutaneous finger syndactyly Aortic regurgitation Carotid artery stenosis Finger clinodactyly Decreased body weight Specific learning disability Pulmonic stenosis Abdominal pain Cardiomyopathy Hypertension Renovascular hypertension Feeding difficulties Bruising susceptibility Polycystic ovaries Aplasia/Hypoplasia of the thymus Abnormality of the adrenal glands Abnormality of the gastrointestinal tract Osteomalacia Abnormality of the musculature Telangiectasia of the skin Urticaria Recurrent bacterial infections Immunodeficiency Hyperpigmentation of the skin Lymphedema Gingival overgrowth Chronic diarrhea Subcutaneous nodule Malabsorption Camptodactyly of finger Apnea Hypodontia Aniridia Rib segmentation abnormalities Pneumonia Short nose Neck muscle hypoplasia Cervical segmentation defect Short face Shoulder muscle hypoplasia Hypoplastic inferior ilia Cervical C2/C3 vertebral fusion Short philtrum Abnormal sacrum morphology Dimple chin Abnormality of the thumb Dystrophic fingernails Dystrophic toenail Hypoplastic scapulae Down-sloping shoulders Micropenis Small for gestational age Glossoptosis Cardiac arrest Thin ribs Hypokinesia Flared metaphysis Hyperostosis Redundant skin Disproportionate short-limb short stature Hypocalcemia Progressive microcephaly Polymicrogyria Decreased fetal movement Oligohydramnios Ambiguous genitalia Limb undergrowth Abdominal distention Ascites Pulmonary hypoplasia Hearing abnormality Sprengel anomaly Prominent nose Osteomyelitis Low back pain Small face Ridged nail Osteopetrosis Abnormality of the clavicle Abnormality of the vertebral column Agenesis of permanent teeth Abnormality of the thorax Persistence of primary teeth Back pain Abnormality of the nail Increased bone mineral density Abnormal vertebral morphology Abnormality of the face Small nail Growth hormone deficiency Abnormal pattern of respiration Delayed eruption of permanent teeth Short clavicles Sloping forehead Increased number of teeth Chronic otitis media Abnormality of the metacarpal bones Spina bifida occulta Hemivertebrae Sinusitis Large fontanelles Tapered finger Delayed eruption of primary teeth High, narrow palate Mandibular prognathia Clinodactyly of the 5th finger Abnormal pelvis bone ossification Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Ivory epiphyses of the toes



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