Macrocephaly, and Joint laxity

Diseases related with Macrocephaly and Joint laxity

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

Top matches:

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

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

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA Is also known as spondyloenchondromatosis with d-2-hydroxyglutaric aciduria|metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria|metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Other less relevant matches:

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).

OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 Is also known as oi2b, formerly|osteogenesis imperfecta, type iib, formerly|oi, type vii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VII; OI7

Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea SyndromeBrittle cornea syndrome-2 (BCS2 ) is caused by mutation in the PRDM5 gene (OMIM ) on chromosome 4q27.

BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as ehlers-danlos syndrome, type vib, formerly|dysgenesis mesodermalis corneae et sclerae|corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility|eds6b, formerly|fragilitas oculi with joint hyperextensibility

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Epicanthus
  • Myopia
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about BRITTLE CORNEA SYNDROME 1; BCS1

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

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE X; OI10 Is also known as oi, type x

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE X; OI10

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Macrocephaly and Joint laxity

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Relative macrocephaly Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Limb undergrowth Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing Rhizomelia Hyperlordosis Lumbar hyperlordosis Midface retrusion Narrow chest Malar flattening Dentinogenesis imperfecta Wormian bones Skeletal dysplasia Sparse hair Coxa vara Osteopenia Thoracolumbar scoliosis Hypertelorism Wide anterior fontanel Blue sclerae Prominent forehead Intellectual disability Hearing impairment Global developmental delay Increased susceptibility to fractures Brachydactyly

Rare Symptoms - Less than 30% cases

High forehead Mandibular prognathia Generalized hypotonia Micromelia Hypoplasia of teeth Posteriorly rotated ears Severe short stature Low-set ears Short neck Chronic kidney disease Disproportionate tall stature Shallow orbits Vertebral compression fractures Dilatation Epicanthus Craniosynostosis High palate Cognitive impairment Platyspondyly High myopia Triangular face Prominent nasal bridge Anteverted nares Pes planus Proptosis Failure to thrive Delayed speech and language development Motor delay Long philtrum Delayed eruption of teeth Hoarse voice Hydronephrosis Myopia Depressed nasal bridge Genu valgum Macroglossia Growth delay Micrognathia Kyphoscoliosis Delayed skeletal maturation Coxa valga Kyphosis Pulmonic stenosis Spondyloepimetaphyseal dysplasia Dry skin Broad ribs Congenital hip dislocation Respiratory distress Inguinal hernia Decreased corneal thickness 3-4 toe syndactyly Broad nail Narrow forehead Keratoglobus Palmoplantar cutis laxa Talipes valgus Abnormal lung morphology Red hair Nephrolithiasis Short nail Pyloric stenosis Molluscoid pseudotumors Bilateral postaxial polydactyly Sandal gap Peripheral pulmonary artery stenosis Nephronophthisis Cutis laxa Cholestasis Fine hair Postaxial hand polydactyly Ectodermal dysplasia Everted lower lip vermilion Postaxial polydactyly Widely spaced teeth Cirrhosis Stage 5 chronic kidney disease Sagittal craniosynostosis Toe syndactyly Scaphocephaly Telecanthus Polydactyly Rod-cone dystrophy Syndactyly Renal insufficiency Abnormality of the skeletal system Hepatic fibrosis High pitched voice Absent nasal bridge Femoral bowing Hyperpigmentation of the skin Carious teeth Joint hyperflexibility Smooth philtrum Abnormality of skin pigmentation Thin vermilion border Wide nose Hypoplasia of the maxilla Bifid uvula Prominent nose Esotropia Microdontia Large fontanelles Hemangioma Thin upper lip vermilion Coarse hair Prominent supraorbital ridges Brittle hair Premature loss of teeth Capillary hemangioma Decreased skull ossification Delayed closure of the anterior fontanelle Narrow iliac wings High iliac wings Sutural cataract Posterior Y-sutural cataract Posterior wedging of vertebral bodies Punctate cataract Wide mouth Gastroesophageal reflux Thin ribs Broad-based gait Generalized joint laxity Chronic lung disease Ureteropelvic junction obstruction Anemia Talipes equinovarus Buphthalmos Cardiomyopathy Elevated serum creatine phosphokinase Constipation Hypothyroidism Intellectual disability, moderate Hip dislocation Flat face Omphalocele Optic atrophy Clumsiness Increased body weight Hypercholesterolemia Congenital hypothyroidism Drowsiness Long thorax Thyroid hormone receptor defect No permanent dentition Increased T3/T4 ratio Cleft palate Cataract Cryptorchidism Wide nasal bridge Hyperextensibility of the finger joints Crumpled long bones Spondylolisthesis Abnormality of dental eruption Strabismus Alopecia Abnormality of the pinna Short palm Tapered finger Aciduria Waddling gait Thoracic scoliosis Irregular vertebral endplates Cavum septum pellucidum D-2-hydroxyglutaric aciduria Hypoplastic iliac body Seizures Ataxia Abnormality of the nail Downslanted palpebral fissures Ventriculomegaly Hydrocephalus Cerebellar atrophy Absent speech Cerebellar hypoplasia Broad thumb Upslanted palpebral fissure Cervical spine instability Hypoplasia of the femoral head Gait ataxia Mesomelia Functional respiratory abnormality Vertebral clefting Irregular epiphyses Flexion contracture Barrel-shaped chest Proportionate short stature Hypodontia Nail dysplasia Short finger Small nail Elbow flexion contracture Cubitus valgus Increased vertebral height Cone-shaped epiphysis Metaphyseal irregularity Short femoral neck Metaphyseal dysplasia Metaphyseal widening Ovoid vertebral bodies Hypoplastic ilia Shield chest Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Thoracolumbar kyphoscoliosis Cerebral cortical atrophy Macrotia Atypical scarring of skin Glaucoma Multiple prenatal fractures Protrusio acetabuli Decreased calvarial ossification Absent pulmonary artery Multiple rib fractures Hypoplastic pulmonary veins Absent nasal cartilage Externally rotated/abducted legs Abnormality of the dentition Hernia Visual loss Scarring Bronchiolitis Pectus carinatum Talipes Joint hypermobility Retinal detachment Mitral valve prolapse Reduced bone mineral density Hyperextensible skin Hallux valgus Keratoconus Megalocornea Soft skin Wide cranial sutures Breech presentation Difficulty walking Slender build Arachnodactyly Long face Abnormal cerebellum morphology Overgrowth Tall stature Sparse eyebrow Large hands Long fingers Megalencephaly Long foot Communicating hydrocephalus Metopic synostosis Delayed cranial suture closure Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Respiratory insufficiency Pectus excavatum Low-set, posteriorly rotated ears Recurrent fractures Round face Delayed gross motor development Bowing of the legs Forehead hyperpigmentation


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