Macrocephaly, and Joint hypermobility

Diseases related with Macrocephaly and Joint hypermobility

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 99; MRX99

Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).

OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 Is also known as oi, type ix

Related symptoms:

  • Scoliosis
  • Growth delay
  • Macrocephaly
  • Kyphosis
  • Pectus excavatum


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE IX; OI9

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

Other less relevant matches:

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).

1P21.3 MICRODELETION SYNDROME Is also known as monosomy 1p21.3|del(1)p(21.3)

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Micrognathia
  • Delayed speech and language development
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about 1P21.3 MICRODELETION SYNDROME

Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 5 Is also known as oi type 5|oi, type v

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 5

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

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

Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

GIANT AXONAL NEUROPATHY Is also known as gan

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GIANT AXONAL NEUROPATHY

This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008).

MENTAL RETARDATION, X-LINKED 21; MRX21 Is also known as mental retardation, x-linked 34|mrx34

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 21; MRX21

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing Pes planus Joint hyperflexibility Relative macrocephaly Pectus excavatum

Rare Symptoms - Less than 30% cases

Skeletal dysplasia Abnormality of pelvic girdle bone morphology High forehead Seizures Hyperlordosis Hypertelorism Ventriculomegaly Full cheeks Broad nasal tip Intellectual disability, mild Short nose Obesity Upslanted palpebral fissure Deeply set eye Autistic behavior Brachydactyly Mandibular prognathia Wide mouth Platyspondyly Nystagmus Round face Dentinogenesis imperfecta Ataxia Broad forehead Recurrent fractures Aggressive behavior Blue sclerae Rhizomelia Abnormal facial shape Wormian bones Increased susceptibility to fractures Unsteady gait Peripheral axonal neuropathy Falls Babinski sign Genu valgum Pes cavus Difficulty walking Proximal muscle weakness Distal muscle weakness Abnormal pyramidal sign Spastic paraplegia Limb muscle weakness Abnormality of the foot Paraplegia Facial palsy Hyperreflexia Areflexia Arteriovenous malformation Toe syndactyly Facial asymmetry Polymicrogyria Arnold-Chiari malformation Hand polydactyly Aplasia/Hypoplasia of the cerebellum Cutis marmorata Hypermelanotic macule Telangiectasia of the skin Foot polydactyly Nevus flammeus Cerebral ischemia Cerebellar atrophy Visceral angiomatosis Abnormality of nervous system morphology Asymmetric growth Spasticity Motor delay Peripheral neuropathy Distal sensory impairment Dysarthria Skeletal muscle atrophy Abnormality of the skeletal system Talipes equinovarus Distal amyotrophy Brisk reflexes Sensory neuropathy Abnormality of skin pigmentation Abnormality of the Achilles tendon Diffuse axonal swelling Strabismus Depressivity Hyperactivity Autism Macrotia Coarse facial features Intellectual disability, moderate Synophrys Short palm Abnormality of the pituitary gland Thick vermilion border Everted lower lip vermilion Open mouth Dental crowding Tented upper lip vermilion Prominent supraorbital ridges Impulsivity Broad palm Macroorchidism Uplifted earlobe Pili canaliculi Curly eyelashes Polyneuropathy Sensory axonal neuropathy Abnormal cerebellum morphology Sensory impairment Abnormality of the hair Fasciculations Sensorimotor neuropathy Paraparesis Spastic paraparesis CNS hypomyelination Abnormality of the hand Steppage gait Amyotrophic lateral sclerosis Abnormal hand morphology Decreased number of peripheral myelinated nerve fibers Curly hair Axonal loss Facial diplegia Motor axonal neuropathy Bulbar signs Woolly hair Areflexia of lower limbs Morphological abnormality of the pyramidal tract Hyporeflexia of lower limbs Red hair Finger syndactyly Hypertrichosis Arrhythmia Shyness Micrognathia Delayed speech and language development Myopia Behavioral abnormality Astigmatism Abnormality of vision Self-injurious behavior Self-mutilation Long ear Abnormal eating behavior Abnormality of femur morphology Hearing impairment Abnormality of the dentition Midface retrusion Abnormality of metabolism/homeostasis Narrow mouth Osteopenia Thin upper lip vermilion Abnormality of the eye Triangular face Childhood onset short-limb short stature Abnormality of the elbow Mixed hearing impairment Disproportionate short-limb short stature Constipation Prominent forehead Broad thumb Growth delay Kyphosis Osteoporosis Kyphoscoliosis Pectus carinatum Wide anterior fontanel Femoral bowing Spinal canal stenosis Multiple prenatal fractures Bowing of limbs due to multiple fractures Micromelia Osteoarthritis Abnormality of the metaphysis Abnormal form of the vertebral bodies Bowing of the long bones Short toe Sleep apnea Genu varum Limb undergrowth Dislocated radial head Abnormality of cardiovascular system morphology Abnormality of the sternum Proptosis Camptodactyly Hip dislocation Bifid uvula Mitral regurgitation Gingival overgrowth Joint dislocation Aortic regurgitation Aortic aneurysm Striae distensae Malar flattening Dilatation of the cerebral artery Aortic dissection Pulmonary artery aneurysm Cervical spine instability Neoplasm Failure to thrive Muscular hypotonia Depressed nasal bridge Optic atrophy Hydrocephalus Dilatation Downslanted palpebral fissures Barrel-shaped chest Short distal phalanx of finger Vertebral compression fractures Biconcave vertebral bodies Vertebral wedging Limited pronation/supination of forearm Thin calvarium Dense metaphyseal bands Anterior radial head dislocation Hyperplastic callus formation Cataract Short metacarpal Flexion contracture Short metatarsal Short clavicles Pseudohypoparathyroidism Ectopic calcification Upper limb asymmetry Moderately short stature Multiple impacted teeth Type E brachydactyly Straight clavicles Aplasia/Hypoplasia of the distal phalanx of the hallux Maxillary lateral incisor microdontia


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