Frontal bossing, and Joint hyperflexibility

Diseases related with Frontal bossing and Joint hyperflexibility

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

Top matches:

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

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

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

Other less relevant matches:

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

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

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

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

High 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

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

MICROPHTHALMIA WITH LIMB ANOMALIES Is also known as waardenburg anophthalmia syndrome|waardenburg syndrome, type ivc|waardenburg syndrome with hirschsprung disease, type 4c|oas|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Depressed nasal bridge Scoliosis Brachydactyly Abnormal form of the vertebral bodies Seizures Kyphosis Long philtrum Bowing of the long bones Global developmental delay High palate Toe syndactyly Skeletal dysplasia Midface retrusion Optic atrophy Broad thumb Abnormality of the metaphysis Ventriculomegaly Prominent forehead Severe short stature Cryptorchidism Intrauterine growth retardation Anteverted nares Cataract Micrognathia Narrow chest

Rare Symptoms - Less than 30% cases

Arteriovenous malformation Proptosis Foot polydactyly Hearing impairment Visceral angiomatosis Patent ductus arteriosus Flared metaphysis Micromelia Short long bone Abnormality of the ribs Microdontia Delayed eruption of teeth Osteopenia Hypertelorism Generalized hypotonia Elbow dislocation Thin vermilion border Cutis marmorata Neurological speech impairment Disproportionate short-limb short stature Wide nose Acanthosis nigricans Hypoplasia of the maxilla Malar flattening Wormian bones Cleft palate Disproportionate short stature Wide nasal bridge Abnormal facial shape Sensorineural hearing impairment Joint hypermobility Talipes equinovarus Microphthalmia Neoplasm Intellectual disability, moderate Joint laxity Deeply set eye Clinodactyly of the 5th finger Hyperlordosis Wide mouth Finger syndactyly Hand polydactyly Capillary hemangioma Dolichocephaly Joint stiffness Posterior wedging of vertebral bodies Prominent supraorbital ridges Brittle hair Dysarthria Premature loss of teeth Hyperreflexia Decreased skull ossification Delayed closure of the anterior fontanelle Abnormal cardiac septum morphology Hypoplasia of teeth Punctate cataract Narrow iliac wings Autistic behavior Forehead hyperpigmentation High iliac wings Hemangioma Sutural cataract Posterior Y-sutural cataract Coarse hair Large fontanelles Attention deficit hyperactivity disorder Smooth philtrum Gastroesophageal reflux Ankyloglossia Abnormality of the skeletal system Interrupted aortic arch Broad hallux phalanx Thin upper lip vermilion Sparse hair Prominent nasal bridge Carious teeth Truncus arteriosus Transposition of the great arteries Pulmonic stenosis High hypermetropia Abnormality of skin pigmentation Wide anterior fontanel Broad hallux Schizophrenia Coarctation of aorta Vesicoureteral reflux Sleep disturbance Bifid uvula Prominent nose Short foot Iris coloboma Bulbous nose Esotropia Delayed speech and language development Hyperpigmentation of the skin Pes planus Limited elbow extension Obesity Tarsal synostosis Blue irides Short tibia Abnormal eyebrow morphology Postaxial foot polydactyly Synostosis of carpal bones Fibular hypoplasia Tibial bowing Large earlobe Premature graying of hair Anosmia Abnormality of the metacarpal bones Hypopigmented skin patches Sandal gap Horseshoe kidney Heterochromia iridis Abnormality of the lower limb Aganglionic megacolon White eyelashes Camptodactyly of 2nd-5th fingers Lacrimal gland hypoplasia Hypoplasia of the premaxilla Synostosis of joints White eyebrow Foot oligodactyly Macrodontia White hair Arrhinencephaly Hand oligodactyly Intestinal pseudo-obstruction Venous insufficiency White forelock Abnormality of the thumb Abnormality of the upper limb Bilateral single transverse palmar creases Postaxial hand polydactyly Hyperhidrosis Dental crowding Mesomelia Chronic otitis media Abnormality of pelvic girdle bone morphology Genu varum Clonus Rhizomelia Lumbar hyperlordosis Spinal canal stenosis Limb undergrowth Dental malocclusion Sudden cardiac death Short palm Apnea Conductive hearing impairment Anxiety Obstructive sleep apnea Hypopigmentation of the skin Acromelia Cleft upper lip Hip dislocation Blepharophimosis Low-set, posteriorly rotated ears Hypogonadism Intellectual disability, severe Abnormality of the ilium Abnormality of the elbow Childhood onset short-limb short stature Narrow sacroiliac notch Aplasia/hypoplasia of the extremities Long thorax Neonatal short-limb short stature Diaphyseal thickening Large forehead Aggressive behavior Multiple lipomas Hydronephrosis Abnormality of neuronal migration Cognitive impairment Respiratory insufficiency Atrial septal defect Polyhydramnios Abnormality of the kidney Platyspondyly Flat face Limitation of joint mobility Decreased fetal movement Encephalocele Short ribs Holoprosencephaly Redundant skin Metaphyseal irregularity Short thorax Abnormality of nervous system morphology Occipital encephalocele 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 Growth delay Asymmetric growth Cerebral ischemia Downslanted palpebral fissures Upper limb asymmetry Sprengel anomaly Beaking of vertebral bodies Ovoid vertebral bodies Vertebral wedging Acromesomelia Ataxia Nystagmus Short distal phalanx of finger Round face Short metacarpal Short metatarsal Short clavicles Pseudohypoparathyroidism Ectopic calcification Moderately short stature Nevus flammeus Multiple impacted teeth Type E brachydactyly Straight clavicles Aplasia/Hypoplasia of the distal phalanx of the hallux Abnormality of cardiovascular system morphology Arrhythmia High forehead Facial asymmetry Polymicrogyria Full cheeks Arnold-Chiari malformation Aplasia/Hypoplasia of the cerebellum Hypermelanotic macule Telangiectasia of the skin Low-set ears Edema Autism Intestinal polyposis Narrow palate Delayed gross motor development Cachexia Intracranial hemorrhage Aortic aneurysm Multiple cafe-au-lait spots Hamartoma Irregular hyperpigmentation Hashimoto thyroiditis Lipoma Meningioma Abnormality of the optic nerve Angina pectoris Thyroid carcinoma Neoplasm of the breast Telangiectasia Hamartomatous polyposis Subcutaneous hemorrhage Abdominal wall muscle weakness Uterine neoplasm Abnormal large intestine morphology Neoplasm of the adrenal cortex Microcephaly Strabismus Epicanthus Behavioral abnormality Depressivity Inguinal hernia Agenesis of corpus callosum Hyperactivity Lymphedema Tall stature Craniosynostosis Communicating hydrocephalus Bruising susceptibility Recurrent fractures Blue sclerae Hydrops fetalis Abnormality of dental enamel Increased susceptibility to fractures Abnormality of the voice High pitched voice Pathologic fracture Hyperthyroidism Central hypotonia Turricephaly Shallow orbits Coronal craniosynostosis Vertebral compression fractures Subcutaneous nodule Severe hydrops fetalis Multiple suture craniosynostosis Crumpled long bones Orbital craniosynostosis Muscle weakness Skeletal muscle atrophy Myopathy Short nose Pectus excavatum Delayed skeletal maturation Macrotia Hypoglycemia Nevus Lymphoma True anophthalmia


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