Brachydactyly, and Joint hyperflexibility

Diseases related with Brachydactyly and Joint hyperflexibility

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


Top matches:

Medium match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE


Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).

Related symptoms:

  • Scoliosis
  • Depressed nasal bridge
  • Brachydactyly
  • Frontal bossing
  • Kyphosis


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

Medium match HYPOCHONDROPLASIA


Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

Medium match ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA


Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia (see this term) characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.

ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA Is also known as asped

Related symptoms:

  • Short stature
  • Pain
  • Brachydactyly
  • Delayed skeletal maturation
  • Joint hyperflexibility


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA

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Other less relevant matches:

Medium match BRACHYDACTYLY TYPE E


Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

BRACHYDACTYLY TYPE E Is also known as bde|brachydactyly, type e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE E

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

Medium match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Medium match ACHONDROPLASIA


Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Medium match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Medium match NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

Medium match SHORT SYNDROME


SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Joint hyperflexibility

Symptoms // Phenotype % cases
Frontal bossing Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the metaphysis Kyphosis Muscular hypotonia Micromelia Abnormal form of the vertebral bodies Bowing of the long bones Intrauterine growth retardation Intellectual disability Hyperlordosis Skeletal dysplasia Prominent forehead Global developmental delay Delayed skeletal maturation Delayed eruption of teeth Growth delay Hydrocephalus Midface retrusion Seizures Joint laxity Childhood onset short-limb short stature Genu varum Spinal canal stenosis Osteoarthritis Disproportionate short stature Disproportionate short-limb short stature Micrognathia Depressed nasal bridge Low-set ears Neurological speech impairment Short palm Flared metaphysis

Rare Symptoms - Less than 30% cases


Abnormality of dental enamel High palate Hypertelorism Proptosis Osteopenia Microdontia Abnormality of the ribs Wormian bones Failure to thrive Ventriculomegaly Abnormality of the voice Dental malocclusion Metaphyseal irregularity Abnormality of the skeletal system Acanthosis nigricans Malar flattening Narrow chest Platyspondyly Atrial septal defect Cognitive impairment Limited elbow extension Hearing impairment Limb undergrowth Lumbar hyperlordosis Dental crowding Rhizomelia Short long bone Insulin-resistant diabetes mellitus Generalized hypotonia Bilateral sensorineural hearing impairment Abnormality of the dentition Beaking of vertebral bodies Abnormality of epiphysis morphology Multiple epiphyseal dysplasia Hypodontia Pain Irregular epiphyses Abnormality of the elbow Abnormality of pelvic girdle bone morphology Premature osteoarthritis Epiphyseal dysplasia Alopecia Nystagmus Cataract Metaphyseal dysplasia Joint hypermobility Joint stiffness Short distal phalanx of finger Short metacarpal Intellectual disability, mild Short chin Decreased testosterone in males Macroorchidism Hamartomatous polyposis Carpal bone hypoplasia Myelopathy Aortic root aneurysm Ulnar deviation of the hand Genu recurvatum Narrow nasal bridge Slender finger Long nose Delayed epiphyseal ossification Enlarged joints Intestinal polyposis Decreased serum estradiol Decreased serum testosterone level Disproportionate tall stature Small epiphyses Obsessive-compulsive behavior Emotional lability Hypoplasia of the odontoid process Abnormality of the rib cage Metaphyseal widening Ulnar deviation of the wrist Growth hormone deficiency Short foot Sensory neuropathy Genu valgum Delayed puberty Arthritis Arthralgia Type II diabetes mellitus Abnormal vertebral morphology Gait disturbance Hypogonadotrophic hypogonadism Hyperinsulinemia Abnormally folded helix Impaired social interactions Scaling skin Rickets Cat cry Oppositional defiant disorder Spondyloepiphyseal dysplasia Low frustration tolerance Bowing of the legs Velopharyngeal insufficiency Abnormality of the hip bone Abnormal joint morphology Waddling gait Ascending tubular aorta aneurysm Upper limb undergrowth Atlantoaxial dislocation Diabetes mellitus Cervical myelopathy Opacification of the corneal stroma Congenital glaucoma Glucose intolerance Hyperglycemia Radial deviation of finger Lipodystrophy Prominent supraorbital ridges Nephrocalcinosis Lipoatrophy Congenital hip dislocation Increased body weight Insulin resistance Decreased body weight Abnormality of the face Thin skin Reduced subcutaneous adipose tissue Abnormality of the immune system Underdeveloped nasal alae Abnormal anterior chamber morphology Hypoplastic facial bones Birth length less than 3rd percentile Enlarged epiphyses Rieger anomaly Abnormality of the mandible Narrow naris Excessive wrinkled skin Poor appetite Dimple chin Abnormal pupil morphology Premature skin wrinkling Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Megalocornea Abnormality of the skin Triangular face Cervical instability Ulnar metaphyseal irregularity Abnormal facial shape Sensorineural hearing impairment Microcephaly Small epiphyses of the phalanges of the hand Spatulate ribs Fragmented, irregular epiphyses Radial metaphyseal irregularity Wide nasal bridge Fragmented epiphyses Lumbar spinal canal stenosis Limited hip extension Irregular carpal bones Flared femoral metaphysis Cervical cord compression Delayed speech and language development Myopia Microcornea Deeply set eye Downturned corners of mouth Hypotrichosis Hip dislocation Corneal opacity Small for gestational age Telecanthus Macrotia Hernia Weight loss Glaucoma Nasal speech Inguinal hernia Abnormal heart morphology Clinodactyly Depressivity Aortic aneurysm Large forehead Deep philtrum Communicating hydrocephalus Craniosynostosis Bruising susceptibility Recurrent fractures Blue sclerae Hydrops fetalis Increased susceptibility to fractures High pitched voice Pathologic fracture Hyperthyroidism Central hypotonia Turricephaly Shallow orbits Coronal craniosynostosis Vertebral compression fractures Downslanted palpebral fissures Severe hydrops fetalis Multiple suture craniosynostosis Crumpled long bones Orbital craniosynostosis Respiratory insufficiency Patent ductus arteriosus Polyhydramnios Abnormality of the kidney Flat face Limitation of joint mobility Decreased fetal movement Encephalocele Short ribs Holoprosencephaly Edema Aplasia/Hypoplasia of the distal phalanx of the hallux Abnormality of neuronal migration Hyperextensibility of the finger joints Dolichocephaly Sprengel anomaly Ovoid vertebral bodies Vertebral wedging Acromesomelia Short toe Sleep apnea Abnormality of femur morphology Hip dysplasia Cone-shaped epiphysis Short middle phalanx of finger Short 1st metacarpal Short middle phalanx of the 5th finger Delayed ossification of carpal bones Straight clavicles Hip osteoarthritis Hip pain Pseudoepiphyses Pseudoepiphyses of the metacarpals Ataxia Round face Short metatarsal Short clavicles Pseudohypoparathyroidism Ectopic calcification Upper limb asymmetry Moderately short stature Multiple impacted teeth Type E brachydactyly Redundant skin Short thorax Schizophrenia Protruding ear Flexion contracture Feeding difficulties Ventricular septal defect Behavioral abnormality Dilatation Pectus excavatum Agenesis of corpus callosum Hyperactivity Brachycephaly Autism High forehead Thin upper lip vermilion Aggressive behavior Camptodactyly of finger Acromelia Attention deficit hyperactivity disorder Short philtrum Prominent nasal bridge Arachnodactyly Long face Hypoplasia of the maxilla Psychosis Open mouth Broad thumb Anorexia Hallucinations Narrow face Aplasia/Hypoplasia of the corpus callosum Abnormality of the genitourinary system Cleft palate Abnormality of the ilium Occipital encephalocele Dysarthria Aplasia/Hypoplasia of the lungs Short femur Hypoplastic ilia Small face Cloverleaf skull Increased nuchal translucency Severe short-limb dwarfism Short sacroiliac notch Lethal short-limbed short stature Small foramen magnum Small abnormally formed scapulae Wide-cupped costochondral junctions Hyperreflexia Anteverted nares Narrow sacroiliac notch Obesity Hyperhidrosis Conductive hearing impairment Apnea Sudden cardiac death Clonus Elbow dislocation Chronic otitis media Mesomelia Obstructive sleep apnea Diaphyseal thickening Neonatal short-limb short stature Long thorax Aplasia/hypoplasia of the extremities Abnormality of the zygomatic bone



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