Macrocephaly, and Hyporeflexia

Diseases related with Macrocephaly and Hyporeflexia

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

Top matches:

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

NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA

TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about TBCK-RELATED INTELLECTUAL DISABILITY SYNDROME

Other less relevant matches:

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

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency|glycosylphosphatidylinositol biosynthesis defect 3|pign-cdg|gpibd3

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

CEREBROFACIOTHORACIC DYSPLASIA Is also known as pascual-castroviejo syndrome type 1|cerebrofaciothoracic dysplasia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CEREBROFACIOTHORACIC DYSPLASIA

Top 5 symptoms//phenotypes associated to Macrocephaly and Hyporeflexia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anteverted nares Scoliosis Spasticity Frontal bossing Abnormality of the cerebral white matter Absent speech Hypoplasia of the corpus callosum Feeding difficulties Abnormal facial shape Coarse facial features Microcephaly Muscular hypotonia Highly arched eyebrow Brachycephaly Nystagmus Narrow forehead High palate Short stature Short neck Hydronephrosis Talipes equinovarus Hydrocephalus Cognitive impairment Hyperreflexia Low-set ears Motor delay Growth delay Thick vermilion border Cerebral atrophy Cleft palate Cerebellar hypoplasia Ataxia Pes planus Epicanthus Cerebellar vermis hypoplasia Cleft lip Hypertelorism Posteriorly rotated ears Cerebellar atrophy Unsteady gait Peripheral neuropathy Upslanted palpebral fissure Short nose Hernia Prominent forehead Cerebral cortical atrophy Depressed nasal bridge Autistic behavior Deeply set eye Autism Tremor Muscle weakness

Rare Symptoms - Less than 30% cases

Sparse and thin eyebrow Hearing impairment Wide intermamillary distance Self-injurious behavior Brachydactyly Sensorineural hearing impairment Joint hypermobility Bulbar signs Supernumerary nipple Long philtrum Abnormal pyramidal sign Facial palsy Ptosis Babinski sign Hypothyroidism Areflexia Aqueductal stenosis Cleft upper lip Micrognathia Synophrys Oral cleft Congenital diaphragmatic hernia Midface retrusion Vesicoureteral reflux Agenesis of corpus callosum Inguinal hernia Short foot Flat face Thin vermilion border Cryptorchidism Talipes Wide mouth Neonatal hypotonia Polyhydramnios Patent ductus arteriosus Broad philtrum Broad face Anal atresia Atrial septal defect Wide nose Attention deficit hyperactivity disorder Sleep disturbance Abnormality of the skeletal system Broad-based gait Gingival overgrowth Brain atrophy Macroglossia Inability to walk Peripheral axonal neuropathy Prominent nasal bridge Developmental regression Respiratory insufficiency Delayed speech and language development Broad columella Skeletal muscle atrophy Stereotypy Open mouth Tented upper lip vermilion Downturned corners of mouth Thick eyebrow Gastroesophageal reflux Hyperactivity Constipation Hypertonia Pain Failure to thrive Prominent supraorbital ridges Distal muscle weakness Aggressive behavior Behavioral abnormality Intellectual disability, severe Severe muscular hypotonia Progressive spasticity Dysarthria Tracheomalacia Hyperextensibility of the finger joints Muscular hypotonia of the trunk Hypoplasia of the maxilla Growth hormone deficiency Macrotia Conical tooth Rib fusion Splenomegaly Bull's eye maculopathy Low posterior hairline Abnormality of the ribs Poliosis Exodeviation Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Abnormality of the pinna Abnormal cardiac septum morphology Progressive macrocephaly Rectovaginal fistula Overfolded helix Focal impaired awareness seizure Patent foramen ovale Abnormality of the urinary system Amblyopia Choreoathetosis Focal-onset seizure Intention tremor Delayed myelination Postnatal growth retardation Craniosynostosis Short distal phalanx of finger Pulmonary hypoplasia Pectus carinatum Narrow chest Recurrent singultus Pseudobulbar signs Prominent occiput Diplopia Leukoencephalopathy Decreased fetal movement Abnormal autonomic nervous system physiology Muscle stiffness Leukodystrophy Clonus Cerebral calcification Bifid ribs Peripheral demyelination Amenorrhea Hypotension Chorea Gliosis Sudden cardiac death Tetraplegia Sleep apnea Dysphonia Large face Atrophy/Degeneration affecting the brainstem Hypersomnia Hypothermia Megalencephaly Poor coordination Increased CSF protein Drowsiness Muscle fibrillation Postaxial hand polydactyly Bowel incontinence Dysphasia Emotional lability Oral-pharyngeal dysphagia Renal agenesis Precocious puberty Encephalitis Cupped ear Cystic hygroma Tall stature Short metacarpal Overweight Sacral dimple Low hanging columella Coarse hair Renal neoplasm Large for gestational age Round face Sparse eyelashes Broad nasal tip Small hand Subvalvular aortic stenosis Abnormal aortic morphology Short palm Joint hyperflexibility Toe syndactyly Underdeveloped nasal alae Eczema Pain insensitivity Narrow palpebral fissure Mild short stature Obsessive-compulsive behavior Nephroblastoma Pyloric stenosis Short metatarsal Laryngomalacia Low anterior hairline Sparse scalp hair Dysmetria Multicystic kidney dysplasia Bilateral single transverse palmar creases Aortic valve stenosis Short toe Hemivertebrae Short phalanx of finger Finger syndactyly Scarring Abnormal hair pattern Neoplasm Sprengel anomaly Anxiety Self-mutilation Malar flattening Beaking of vertebral bodies Low-set, posteriorly rotated ears Large fleshy ears Obesity Hoarse cry Vertical nystagmus Hydrocele testis Limb hypertonia Anal stenosis Long eyelashes Abnormality of the kidney Abnormality of cardiovascular system morphology Arrhythmia Overlapping toe Downslanted palpebral fissures Self-biting Blepharophimosis Neurodevelopmental delay Strabismus Wide nasal bridge Vertebral segmentation defect Sparse hair Vertebral fusion Mandibular prognathia Feeding difficulties in infancy Conductive hearing impairment Thin upper lip vermilion Umbilical hernia Pectus excavatum Shawl scrotum Clinodactyly of the 5th finger Short chin Absent septum pellucidum Abnormality of eye movement Sensory axonal neuropathy Woolly hair Motor axonal neuropathy Facial diplegia Axonal loss Curly hair Decreased number of peripheral myelinated nerve fibers Amyotrophic lateral sclerosis Brisk reflexes Steppage gait Morphological abnormality of the pyramidal tract Abnormality of the hand CNS hypomyelination Spastic paraparesis Paraparesis Sensorimotor neuropathy Fasciculations Abnormality of the hair Sensory impairment Areflexia of lower limbs Hyporeflexia of lower limbs Polyneuropathy Camptodactyly Wide nasal base Relative macrocephaly Dental crowding Hypertrichosis Short palpebral fissure Apraxia Neuronal loss in central nervous system Delayed eruption of teeth Hepatosplenomegaly Red hair Kyphoscoliosis Clinodactyly Diffuse axonal swelling Abnormality of the Achilles tendon Pili canaliculi Abnormality of the pituitary gland Curly eyelashes Abnormal hand morphology Abnormal cerebellum morphology Sensory neuropathy Flexion contracture Progressive microcephaly Sloping forehead Bulbous nose Poor speech Encephalopathy Visual impairment Happy demeanor Tics Widely spaced teeth Esotropia Infantile muscular hypotonia Everted lower lip vermilion Retrocerebellar cyst Short upper lip Slender build Facial hypotonia Narrow palate Short philtrum Myoclonus Cerebral visual impairment Global brain atrophy Distal sensory impairment Difficulty walking Distal amyotrophy Falls Paraplegia Genu valgum Abnormality of the foot Limb muscle weakness Spastic paraplegia Proximal muscle weakness High forehead Abnormality of the periventricular white matter Pes cavus Extra-axial cerebrospinal fluid accumulation Gastrostomy tube feeding in infancy Small basal ganglia Reduced brain N-acetyl aspartate level by MRS Exaggerated cupid's bow Dysplastic corpus callosum Profound global developmental delay Cataract Myopia Nausea and vomiting Remnants of the hyaloid vascular system Macrogyria Severe hydrocephalus Metatarsus valgus Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Posterior fossa cyst Excessive daytime sleepiness Chorioretinal dysplasia Agyria Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Peters anomaly Buphthalmos Abnormality of the optic nerve Abnormal lactate dehydrogenase activity Hypoplastic male external genitalia Retinal dysplasia Hyperhidrosis Neurological speech impairment Cough Hyperlordosis EEG abnormality Osteopenia Weight loss Respiratory failure Diabetes mellitus Dementia Aplasia/Hypoplasia involving the skeletal musculature Depressivity Kyphosis Vomiting Dysphagia Gait disturbance Hypertension Abnormal aldolase level Thick cerebral cortex Abnormal cortical gyration Bilateral cleft lip Intrauterine growth retardation Coloboma Retinal dystrophy Iris coloboma Polymicrogyria Congenital cataract Muscular dystrophy Corneal opacity Microtia Retinopathy Protruding ear Microcornea Proptosis Glaucoma Elevated serum creatine phosphokinase Dilatation Microphthalmia Myopathy Blindness Optic atrophy Retinal detachment Bifid uvula Megalocornea Congenital contracture Retinal atrophy Submucous cleft hard palate Occipital encephalocele Congenital glaucoma Abnormality of neuronal migration Hypoplasia of the brainstem Anophthalmia Congenital muscular dystrophy Atresia of the external auditory canal Dandy-Walker malformation Optic nerve hypoplasia Lissencephaly Renal dysplasia Heterotopia Pachygyria Encephalocele Intellectual disability, profound Hypoplasia of penis Specific learning disability Microdontia of primary teeth


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