Macrocephaly, and Dysphagia

Diseases related with Macrocephaly and Dysphagia

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


Top matches:

High match DIHYDROPTERIDINE REDUCTASE DEFICIENCY


Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.

DIHYDROPTERIDINE REDUCTASE DEFICIENCY Is also known as hyperphenylalaninemia due to dihydropteridine reductase deficiency|pku type 2|phenylketonuria type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIHYDROPTERIDINE REDUCTASE DEFICIENCY

Medium match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS


Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS Is also known as mlc|megalencephaly-cystic leukodystrophy syndrome|van der knaap disease|vl|vacuolating megalencephalic leukoencephalopathy with subcortical cysts|van der knaap syndrome|lvm|megalencephalic leukodystrophy|leukoencephalopathy with swelling and cysts

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS

Medium match NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS; NDPLHS


NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome (RTT ) (summary by Yoo et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Macrocephaly
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS; NDPLHS

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Other less relevant matches:

Medium match SEVERE CANAVAN DISEASE


Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.

SEVERE CANAVAN DISEASE Is also known as neonatal canavan disease|infantile canavan disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SEVERE CANAVAN DISEASE

Medium match TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME


TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as distal arthrogryposis type 7|hecht-beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|trismus-pseudocamptodactyly syndrome|hecht syndrome|dutch-kentucky syndrome

Related symptoms:

  • Short stature
  • Micrognathia
  • Abnormal facial shape
  • Ptosis
  • Feeding difficulties


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

Medium match LENNOX-GASTAUT SYNDROME


Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

Medium match STURGE-WEBER SYNDROME


Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

STURGE-WEBER SYNDROME Is also known as sws|sturge-weber-dimitri syndrome|sturge-weber-krabbe angiomatosis|encephalofacial angiomatosis|sturge-weber-krabbe syndrome|encephalotrigeminal angiomatosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Strabismus
  • Hyperreflexia
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about STURGE-WEBER SYNDROME

Medium match CANAVAN DISEASE


CANAVAN DISEASE Is also known as spongy degeneration of central nervous system|aminoacylase 2 deficiency|asp deficiency|aspartoacylase deficiency|aspa deficiency|acy2 deficiency|canavan-van bogaert-bertrand disease

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CANAVAN DISEASE

Medium match AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY


Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant|ad-cnm|myopathy, centronuclear, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

Medium match ATELOSTEOGENESIS TYPE I


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

Top 5 symptoms//phenotypes associated to Macrocephaly and Dysphagia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Gastroesophageal reflux Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Ptosis EEG abnormality Optic atrophy Sleep disturbance Developmental regression Autistic behavior Microcephaly

Rare Symptoms - Less than 30% cases


Feeding difficulties Motor delay Bruxism Low-set ears Hyperreflexia Hearing impairment Muscular hypotonia Delayed speech and language development Scoliosis Depressed nasal bridge Ataxia Tented upper lip vermilion Abnormality of visual evoked potentials Cryptorchidism Myopathy Dystonia Downslanted palpebral fissures Gingival overgrowth Blindness Leukodystrophy Aspiration Megalencephaly Falls Flexion contracture Poor head control Rigidity Recurrent respiratory infections Mental deterioration Generalized tonic-clonic seizures Behavioral abnormality Abnormality of the dentition Intellectual disability, severe Spontaneous abortion Urinary incontinence Open mouth Decreased fetal movement Frequent falls Progressive muscle weakness Pyloric stenosis External ophthalmoplegia Respiratory insufficiency due to muscle weakness Delayed gross motor development EMG: myopathic abnormalities Easy fatigability Ophthalmoparesis Skeletal muscle hypertrophy Calf muscle hypertrophy Generalized muscle weakness Generalized-onset seizure Peripheral axonal neuropathy Nasal regurgitation Cerebral palsy Hyperkinesis Oral-pharyngeal dysphagia Opisthotonus Reduced consciousness/confusion Delayed closure of the anterior fontanelle CNS demyelination Peripheral demyelination Homocystinuria Vegetative state Decerebrate rigidity Aplasia/Hypoplasia involving the central nervous system Ophthalmoplegia Large for gestational age Pain Skeletal muscle atrophy Abnormality of retinal pigmentation Areflexia Pes cavus Polyhydramnios Difficulty walking Proximal muscle weakness Myalgia Facial palsy Muscle weakness Areflexia of lower limbs Mildly elevated creatine phosphokinase Severe muscular hypotonia Macrotia Anxiety Muscular hypotonia of the trunk Respiratory tract infection Severe global developmental delay Poor speech Neurodegeneration Chorea Intellectual disability, profound Aganglionic megacolon Lower limb spasticity Stereotypy Drooling Autism Infantile muscular hypotonia Optic nerve hypoplasia Premature ovarian insufficiency Myotonia Progressive spasticity Poor eye contact Hypoventilation Central hypotonia Facial hypotonia Chronic constipation Central hypoventilation Infantile axial hypotonia Hypothyroidism Narrow mouth Generalized amyotrophy Neonatal asphyxia Muscle fibrillation Thin ribs Centrally nucleated skeletal muscle fibers Drowsiness Malignant hyperthermia Type 1 muscle fiber predominance Brain atrophy Exercise-induced myalgia Restrictive deficit on pulmonary function testing Proximal muscle weakness in lower limbs Cavernous hemangioma Proximal muscle weakness in upper limbs Macrocephaly at birth Brachycephaly Abnormality of the foot musculature Sleepy facial expression Hypertelorism Short nose Malar flattening Recurrent infections Midface retrusion Abnormality of metabolism/homeostasis Absent speech Depressivity Patent ductus arteriosus Constipation Pneumonia Aciduria Hearing abnormality Paralysis Cutaneous syndactyly Syndactyly Mandibular prognathia Camptodactyly Hip dislocation Arthrogryposis multiplex congenita Abnormality of the foot Facial asymmetry Talipes Muscle cramps Limitation of joint mobility Hip dysplasia Deep philtrum Abnormal facial shape Hammertoe Metatarsus adductus Mild short stature Short finger Abnormality of the musculature Distal arthrogryposis Trismus Symphalangism affecting the phalanges of the hand Cutaneous syndactyly of toes Calcaneovalgus deformity Tall chin Talipes equinovarus Micrognathia Cerebral atrophy Apnea Intellectual disability, mild Abnormality of the cerebral white matter Progressive cerebellar ataxia Progressive neurologic deterioration Leukoencephalopathy Motor deterioration Abnormal muscle tone Diffuse swelling of cerebral white matter Diffuse spongiform leukoencephalopathy Gait disturbance Ventriculomegaly Inability to walk Short stature Small hand Short foot Abnormal autonomic nervous system physiology Self-injurious behavior Agitation Hyperventilation Developmental stagnation Breathing dysregulation Visual loss Lethargy Coma Hypoplasia of the corpus callosum Encephalopathy Irritability Abnormality of the cerebral vasculature Iris coloboma Retinal detachment Cerebral calcification Venous thrombosis Corneal dystrophy Arnold-Chiari malformation Abnormality of vision Hyperostosis Pulmonary embolism Capillary hemangioma Heterochromia iridis Abnormality of the retinal vasculature Neurological speech impairment Hemianopia Visceral angiomatosis Conjunctival telangiectasia Abnormal choroid morphology Nystagmus Cognitive impairment Visual impairment Vomiting Hypertonia Babinski sign Feeding difficulties in infancy Abnormality of eye movement Stroke Posteriorly rotated ears Enlarged cisterna magna Myoclonus Hyperactivity High forehead Aggressive behavior Generalized myoclonic seizures Focal-onset seizure Epileptic encephalopathy Intellectual disability, progressive Relative macrocephaly Atonic seizures Abnormality of the periventricular white matter Generalized tonic seizures Attention deficit hyperactivity disorder Abnormality of brainstem morphology Personality disorder Atypical absence seizures Frontotemporal cerebral atrophy CNS infection EEG with focal sharp slow waves Strabismus Hydrocephalus Glaucoma Cerebral cortical atrophy Abnormality of the eye Hostility



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