Frontal bossing, and Joint hypermobility

Diseases related with Frontal bossing and Joint hypermobility

In the following list you will find some of the most common rare diseases related to Frontal bossing and Joint hypermobility 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 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 MEESTER-LOEYS SYNDROME; MRLS


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Flexion contracture
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

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Other less relevant matches:

Medium match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME


Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Medium match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Medium match DWARFISM WITH TALL VERTEBRAE


Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

Medium match BRITTLE CORNEA SYNDROME 1; BCS1


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

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B


Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

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 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A


Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Top 5 symptoms//phenotypes associated to Frontal bossing and Joint hypermobility

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Frontal bossing and Joint hypermobility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hip dislocation Malar flattening Abnormal facial shape Hypertelorism Midface retrusion Blue sclerae Intrauterine growth retardation Failure to thrive Joint hyperflexibility Ventriculomegaly Hernia Long philtrum High palate Pes planus Hyperlordosis Bowing of the long bones Growth delay Hydrocephalus Depressed nasal bridge Muscular hypotonia Short stature Congenital hip dislocation Abnormality of the skeletal system Brachydactyly

Rare Symptoms - Less than 30% cases


Micrognathia Osteopenia Increased susceptibility to fractures Postnatal growth retardation Recurrent fractures Large fontanelles Growth abnormality Redundant skin Polymicrogyria Generalized hypotonia Low-set ears Cutis laxa Joint laxity Epicanthus Talipes Severe short stature Hyperextensible skin Mandibular prognathia High myopia Mitral valve prolapse Bruising susceptibility Scarring Myopia Protruding ear Brachycephaly Inguinal hernia Triangular face Microcephaly Anteverted nares Motor delay Narrow mouth Deeply set eye Camptodactyly Kyphosis Prominent forehead Skeletal dysplasia Mitral regurgitation Proptosis Dolichocephaly Abnormal form of the vertebral bodies Joint dislocation Spondylolisthesis Soft skin Dandy-Walker malformation Atypical scarring of skin Flat face Microdontia Buphthalmos Dentinogenesis imperfecta Megalocornea Carious teeth Hyperextensibility of the finger joints Feeding difficulties in infancy Red hair Short nose Feeding difficulties Confusion Coarse hair Keratoconus Severe intrauterine growth retardation Abnormality of the dentition Visual loss Glaucoma Oxycephaly Pectus carinatum Retinal detachment Lumbar hyperlordosis Lipodystrophy Pachygyria Brittle hair Reduced bone mineral density Prominent supraorbital ridges Hallux valgus Disproportionate tall stature Talipes valgus Wide anterior fontanel Strabismus Seizures Palmoplantar cutis laxa Abnormal glycosylation Pathologic fracture High pitched voice Premature skin wrinkling Prominent superficial veins Colpocephaly Narrow nasal ridge Increased vertebral height Abnormality of the voice Hypotelorism Abnormality of dental enamel Wormian bones Edema Hydrops fetalis Abnormality of the metaphysis Craniosynostosis Abnormality of the ribs Hyperthyroidism Hypoplasia of the maxilla Keratoglobus Decreased corneal thickness Delayed eruption of teeth Orbital craniosynostosis Crumpled long bones Multiple suture craniosynostosis Severe hydrops fetalis Molluscoid pseudotumors Vertebral compression fractures Communicating hydrocephalus Central hypotonia Coronal craniosynostosis Shallow orbits Agenesis of corpus callosum Osteoporosis Gastroesophageal reflux Turricephaly Broad forehead Bulbous nose Hearing impairment Bilateral talipes equinovarus Hypoplastic pelvis Striae distensae Dilatation Platyspondyly Bifid uvula Hypertrichosis Gingival overgrowth Aortic regurgitation Relative macrocephaly Aortic aneurysm Abnormality of the sternum Dilatation of the cerebral artery Aplasia/Hypoplasia of the distal phalanx of the hallux Aortic dissection Pulmonary artery aneurysm Cervical spine instability Neoplasm Optic atrophy Abnormality of cardiovascular system morphology Arrhythmia High forehead Wide mouth Flexion contracture Straight clavicles Toe syndactyly Cataract Joint stiffness Disproportionate short stature Sprengel anomaly Beaking of vertebral bodies Ovoid vertebral bodies Vertebral wedging Acromesomelia Ataxia Nystagmus Short distal phalanx of finger Type E brachydactyly Round face Short metacarpal Short metatarsal Short clavicles Pseudohypoparathyroidism Ectopic calcification Upper limb asymmetry Moderately short stature Multiple impacted teeth Finger syndactyly Facial asymmetry Short 5th finger Clinodactyly of the 5th finger Adducted thumb Patent foramen ovale Fragile skin Facial hypotonia Hypoplasia of the musculature Short neck Hypospadias Pectus excavatum Delayed skeletal maturation Small for gestational age Dental crowding Thick eyebrow Decreased testicular size Short ribs Pointed chin Coxa vara Scapular winging Spina bifida occulta Short thorax Slender long bone Delayed gross motor development Generalized muscle weakness Full cheeks Cerebral ischemia Arnold-Chiari malformation Hand polydactyly Aplasia/Hypoplasia of the cerebellum Cutis marmorata Hypermelanotic macule Telangiectasia of the skin Foot polydactyly Nevus flammeus Arteriovenous malformation Visceral angiomatosis Arachnodactyly Abnormality of nervous system morphology Asymmetric growth Muscle weakness Pain Talipes equinovarus Myopathy Cerebral atrophy Arthralgia Myalgia Telecanthus Abnormal isoelectric focusing of serum transferrin



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