Macrocephaly, and Brachycephaly

Diseases related with Macrocephaly and Brachycephaly

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

Top matches:

This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Visual impairment
  • Macrocephaly
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME

X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS Is also known as mental retardation, x-linked, syndromic 29|mental retardation, x-linked 94|mrx94|mrxs29

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

Other less relevant matches:

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency|auts2 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.

JUVENILE PAGET DISEASE Is also known as familial osteoectasia|hyperphosphatasia, familial idiopathic|juvenile paget disease|hyperostosis corticalis deformans juvenilis|hereditary hyperphosphatasia|osteoectasia, familial|hyperphosphatasemia, chronic congenital idiopathic|juvenile paget's disease

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about JUVENILE PAGET DISEASE

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

Medium match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Top 5 symptoms//phenotypes associated to Macrocephaly and Brachycephaly

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Microcephaly Autistic behavior Low-set ears Autism Craniosynostosis Scoliosis Muscular hypotonia Strabismus Malar flattening Delayed speech and language development Short palpebral fissure Frontal bossing Wide nasal bridge Abnormal facial shape Short philtrum Micrognathia Kyphosis Abnormality of the dentition Muscle weakness Increased bone mineral density

Rare Symptoms - Less than 30% cases

Recurrent fractures Abnormality of the clavicle Feeding difficulties Turricephaly Stereotypy Proptosis Small for gestational age Sparse hair Upslanted palpebral fissure Agenesis of corpus callosum Osteoporosis Pneumonia Ventriculomegaly Depressed nasal bridge Abnormality of the skeletal system Cryptorchidism Midface retrusion Poor speech Prominent forehead Pain Skeletal dysplasia Apnea Broad nasal tip Severe muscular hypotonia Spasticity Wide mouth Ptosis Downslanted palpebral fissures Narrow mouth Hearing impairment Hyperactivity Microretrognathia Myoclonus Broad forehead Facial hypotonia Thickened calvaria High palate Epicanthus Myopia Behavioral abnormality Narrow palate High forehead Intellectual disability, severe Macrotia Bulbous nose Visual impairment Optic atrophy Retrocerebellar cyst Constipation Rigidity Hydroxyprolinemia Muscular hypotonia of the trunk Ataxia Dysphagia Hypothyroidism Spondylolysis Gastroesophageal reflux Myopathy Short nose Anxiety Recurrent infections Delayed eruption of primary teeth Abnormal pattern of respiration Delayed eruption of permanent teeth Abnormality of metabolism/homeostasis Absent speech Depressivity Absent frontal sinuses Patent ductus arteriosus Hydroxyprolinuria Persistence of primary teeth Recurrent respiratory infections Snoring Limb pain Elevated serum acid phosphatase Elevated alkaline phosphatase Hypertension Severe short stature Persistent open anterior fontanelle Respiratory failure Arthralgia Scarring Retinopathy Pectus carinatum Retinal degeneration Bowing of the long bones Subcutaneous nodule Abnormality of retinal pigmentation Mutism Melanocytic nevus Macular scar Hyperostosis Hyperuricemia Severe sensorineural hearing impairment Premature loss of teeth Ankylosis Osteolytic defects of the distal phalanges of the hand Barrel-shaped chest Hyperphosphatemia Vertebral compression fractures Lower limb pain Cranial hyperostosis Rough bone trabeculation Respiratory tract infection Angioid streaks of the fundus Developmental regression Aganglionic megacolon Severe global developmental delay Abnormal vertebral morphology Short distal phalanx of finger Delayed eruption of teeth Postural instability Hypodontia Hypoplasia of the maxilla Prominent nose Growth hormone deficiency Abnormality of the skin Blue sclerae Small nail Abnormality of the face Osteolytic defects of the phalanges of the hand Osteopetrosis Abnormality of epiphysis morphology Bone pain Spondylolisthesis Short toe Abnormality of the nail Wormian bones Abnormality of the vertebral column Abnormality of the fingernails Agenesis of permanent teeth Prominent occiput Osteomyelitis Abnormality of dental morphology Abnormality of the thorax Back pain Increased susceptibility to fractures Osteolysis Sleep apnea Carious teeth Narrow chest Neurodegeneration Hypoventilation Chorea Intellectual disability, profound Abnormality of pelvic girdle bone morphology Lower limb spasticity Aspiration Drooling Infantile muscular hypotonia Tented upper lip vermilion Optic nerve hypoplasia Poor head control Premature ovarian insufficiency Myotonia Progressive spasticity Poor eye contact Central hypotonia Hyperlordosis Hepatomegaly Ridged nail Hepatosplenomegaly Splenomegaly Small face Hydrocephalus Brachydactyly Anemia Chronic constipation Cognitive impairment Hostility Low back pain Infantile axial hypotonia Central hypoventilation Bruxism Motor delay Telecanthus Sensorineural hearing impairment Cerebral cortical atrophy Obsessive-compulsive behavior Large hands Long fingers Overweight Long foot Anteverted nares Respiratory insufficiency Respiratory distress Cardiomyopathy Blindness Vomiting Cerebral atrophy Encephalopathy Mandibular prognathia Low posterior hairline Coarse facial features Irritability Protruding ear Dolichocephaly Lethargy Flat face Aciduria Focal-onset seizure Epileptic encephalopathy Hypsarrhythmia Involuntary movements Cerebral visual impairment Absence seizures Aortic regurgitation Exotropia Hypotelorism Focal impaired awareness seizure Obesity Headache Facial palsy Increased intracranial pressure Mild global developmental delay Broad jaw Hyporeflexia Deeply set eye Aggressive behavior Distal muscle weakness Prominent supraorbital ridges Slender build Short upper lip Nystagmus Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Narrow forehead EEG abnormality Prominent nasal bridge Short palm Short foot Tapered finger Full cheeks Round face Polyphagia Narrow nose Misalignment of teeth Blepharophimosis Astigmatism Arachnodactyly Sleep disturbance Shock Stridor Abnormality of the glabella Bifid nasal tip Depressed nasal ridge Encephalocele Large fontanelles Hypohidrosis Sparse and thin eyebrow Sparse eyelashes Hypopituitarism Median cleft lip Meningocele Coronal craniosynostosis Abnormal toenail morphology Calvarial skull defect Upper airway obstruction Preaxial foot polydactyly Alopecia totalis Hyperkeratosis Bifid nose Broad columella Patellar hypoplasia Thick nasal alae Anterior pituitary hypoplasia Parietal foramina Large sella turcica Median cleft palate Decreased lacrimation Choroid plexus cyst Dermoid cyst Aplasia/Hypoplasia of the tibia Hypoplasia of the olfactory bulb Midline central nervous system lipomas Cerebellar vermis hypoplasia Glaucoma Increased CSF protein Failure to thrive Dilation of lateral ventricles Delayed CNS myelination Periventricular leukomalacia Episodic vomiting Generalized tonic seizures Inspiratory stridor Narrow naris Anteverted ears Infantile encephalopathy Glutaric aciduria Cardiogenic shock Subependymal cysts D-2-hydroxyglutaric aciduria Multifocal cerebral white matter abnormalities Flexion contracture Hyperhidrosis Hyperreflexia Atrial septal defect Hypertonia Arthrogryposis multiplex congenita Thick eyebrow Thick vermilion border Highly arched eyebrow Cerebral palsy Wide nasal base Prominent nasal tip Decreased palmar creases Talipes equinovarus Hypoplasia of the corpus callosum Alopecia Abnormal pelvis bone ossification


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