Brachydactyly, and Joint laxity

Diseases related with Brachydactyly and Joint laxity

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


Top matches:

Medium 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

Medium match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE


Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE Is also known as semd, aggrecan type

Related symptoms:

  • Short stature
  • Low-set ears
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

Mendelian

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

Learn more

Other less relevant 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 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 ANAUXETIC DYSPLASIA


Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017).For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (OMIM ).

ANAUXETIC DYSPLASIA Is also known as spondyloepimetaphyseal dysplasia, menger type|spondyloepimetaphyseal dysplasia, anauxetic type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANAUXETIC DYSPLASIA

Medium match CRANIOECTODERMAL DYSPLASIA 3; CED3


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

Medium match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS


Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Medium match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

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 Joint laxity

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Short neck Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Microcephaly Abnormal facial shape Low-set ears Lumbar hyperlordosis Hyperlordosis Clinodactyly Kyphoscoliosis Macrocephaly Mandibular prognathia Midface retrusion Posteriorly rotated ears Hearing impairment Rhizomelia Pes planus Feeding difficulties Limb undergrowth Seizures Absent speech Hypertelorism Scoliosis Thin upper lip vermilion Short nose

Rare Symptoms - Less than 30% cases


Disproportionate short stature High palate Cervical spine instability Micrognathia Short phalanx of finger Limited elbow extension Behavioral abnormality Short metacarpal Rod-cone dystrophy Skeletal dysplasia Frontal bossing Delayed ossification of carpal bones Ovoid vertebral bodies Constipation Delayed skeletal maturation Disproportionate short-trunk short stature Hypoplasia of the odontoid process Metaphyseal irregularity Barrel-shaped chest Hernia Kyphosis Sparse hair Sensorineural hearing impairment Abnormality of the skeletal system Myopia Broad phalanx Broad metatarsal Broad nasal tip Short nail Thoracolumbar kyphosis Spondyloepimetaphyseal dysplasia Short metatarsal Cleft palate Relative macrocephaly Toe syndactyly Narrow mouth Pectus carinatum Platyspondyly Cerebral visual impairment Sandal gap Growth delay Syndactyly Ataxia Mesomelia IgA deficiency Decreased antibody level in blood Attention deficit hyperactivity disorder Synophrys Poor speech Joint hypermobility Highly arched eyebrow Broad face Pachygyria Atonic seizures Protruding tongue Large forehead Strabismus Cortical gyral simplification IgG deficiency Carpal synostosis Platybasia Dysphagia Basilar impression 3-4 toe syndactyly Widely spaced teeth Chronic kidney disease Nephronophthisis Scaphocephaly Hypoplasia of teeth Sagittal craniosynostosis Peripheral pulmonary artery stenosis Bilateral postaxial polydactyly Broad nail Short nasal septum Anteverted nares Failure to thrive Bowed humerus Ptosis Capitate-hamate fusion Delayed speech and language development Epicanthus Wide nasal bridge Block vertebrae Optic atrophy Depressed nasal bridge Clinodactyly of the 5th finger Hypoplasia of the corpus callosum Otitis media Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Recurrent otitis media Abnormality of the ribs Open mouth Hepatic fibrosis Pointed chin Abnormality of the outer ear Cone/cone-rod dystrophy Abnormal electroretinogram Hypoplasia of dental enamel Round face Renal cyst Focal impaired awareness seizure Self-injurious behavior Abnormality of visual evoked potentials Facial hypotonia Hypoglycemic seizures Cataract Abnormality of the kidney Focal-onset seizure Abnormality of retinal pigmentation Blindness Gastroesophageal reflux Tarsal synostosis Cerebral atrophy Talipes equinovarus Mixed hearing impairment Abnormality of cardiovascular system morphology Restrictive ventilatory defect Brachycephaly Hyperactivity Autism Epiphyseal dysplasia Delayed myelination Coloboma Short philtrum Hypermetropia Astigmatism Iris coloboma Downturned corners of mouth Abnormality of pelvic girdle bone morphology Preauricular skin tag Abnormal vertebral morphology Cutis laxa Coxa valga Cholestasis Hypoplasia of the radius Proportionate short stature Irregular epiphyses Vertebral clefting Functional respiratory abnormality Absent nasal bridge Absent nasal cartilage Prominent forehead Falls Short toe Growth abnormality Metaphyseal widening Flared metaphysis Cone-shaped epiphyses of the phalanges of the hand Radial bowing Beaking of vertebral bodies Long hallux Broad finger Broad metacarpals Acromesomelia Lower thoracic kyphosis Short finger Abnormality of the nail Redundant skin on fingers Nystagmus Motor delay Deeply set eye Neonatal hypotonia Abnormal cardiac septum morphology Unsteady gait Flat face Inability to walk Hypopigmentation of the skin Hyperplasia of the maxilla Spasticity Hoarse voice Visual impairment Pectus excavatum Abnormality of movement Chorea Blue sclerae Rotary nystagmus Ankyloglossia Malar flattening Low-set, posteriorly rotated ears Broad thumb Thoracolumbar interpediculate narrowness Pain Fine hair Polydactyly Broad ribs Hypoplastic ilia Shield chest Hypoplasia of the capital femoral epiphysis Thoracolumbar kyphoscoliosis Increased vertebral height Hypoplasia of the femoral head Hypoplastic iliac body Renal insufficiency Telecanthus Metaphyseal dysplasia Craniosynostosis Narrow chest Pulmonic stenosis Dry skin Stage 5 chronic kidney disease Cirrhosis Postaxial polydactyly Everted lower lip vermilion Ectodermal dysplasia Postaxial hand polydactyly Thoracolumbar scoliosis Short femoral neck Coarse facial features Arthralgia of the hip Arthralgia Genu valgum Small hand Limitation of joint mobility Decreased body weight Hypoplastic pelvis Myelopathy Broad femoral neck Flattened epiphysis Atlantoaxial instability Cone-shaped epiphysis Small forehead Flattened femoral head Flexion contracture Hypodontia Macroglossia Nail dysplasia Small nail Elbow flexion contracture Coxa vara Cubitus valgus C2-C3 subluxation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Intellectual disability, severe, related diseases and genetic alterations Macrocephaly and Abnormality of extrapyramidal motor function, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more