Edema, and Lissencephaly

Diseases related with Edema and Lissencephaly

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

Top matches:

Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.

LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE Is also known as norman-roberts syndrome|lissencephaly syndrome, norman-roberts type|microlissencephaly type a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE

Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

Other less relevant matches:

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

Low match PEHO SYNDROME

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

PEHO SYNDROME Is also known as progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|infantile cerebellooptic atrophy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO SYNDROME

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME Is also known as arc syndrome|arcs

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Lissencephaly

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cerebellar hypoplasia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Edema and Lissencephaly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Pachygyria

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Sloping forehead Polymicrogyria Retrognathia Ventriculomegaly Full cheeks Arthrogryposis multiplex congenita Micrognathia Hypoplasia of the corpus callosum Hyperreflexia Motor delay Cerebral cortical atrophy Epicanthus Optic atrophy Hydrocephalus Short nose Atrial septal defect Absent speech Abnormal facial shape Open mouth Cerebellar atrophy Intellectual disability, severe Anteverted nares Hypertelorism Flexion contracture Scoliosis Hypertonia Lymphedema Intellectual disability, profound

Rare Symptoms - Less than 30% cases

Wide nasal bridge Cerebral atrophy Strabismus High palate Short stature Infantile encephalopathy Respiratory distress Biparietal narrowing Retinal dystrophy Abnormality of eye movement Talipes equinovarus Congenital hip dislocation Palpebral edema Micropenis Hip dislocation Hypermetropia Heterotopia Pointed chin Webbed neck Muscular hypotonia Skeletal dysplasia Feeding difficulties Failure to thrive Macrocephaly Feeding difficulties in infancy Severe muscular hypotonia Cataract Progressive microcephaly Encephalopathy Growth delay Nystagmus Agenesis of corpus callosum Respiratory insufficiency Ventricular septal defect Short neck Areflexia Respiratory failure Hand clenching Spasticity Low-set ears Myoclonus Narrow forehead Neonatal hypotonia Tapered finger Brain atrophy Hypsarrhythmia Kyphoscoliosis Abnormality of metabolism/homeostasis Arrhythmia Intestinal malrotation Paralysis Dilatation Elevated serum creatine phosphokinase Gastroesophageal reflux Renal cyst Intellectual disability, moderate Facial palsy Hyperlordosis Preaxial hand polydactyly Pulmonary hypoplasia Cleft upper lip Oral cleft Cardiomyopathy Muscular dystrophy Narrow chest Abnormality of the cerebral white matter Ophthalmoplegia Inability to walk Platyspondyly Pectus carinatum Macroglossia Short ribs Astigmatism Skeletal muscle atrophy Dysphagia Horizontal ribs Mesomelia Median cleft lip Microglossia Short tibia Hydrops fetalis Thoracic dysplasia Dilation of lateral ventricles Abnormality of the larynx Spondylometaphyseal dysplasia Tricuspid regurgitation Lateral clavicle hook Abnormality of the genital system Median cleft lip and palate Cerebellar vermis hypoplasia Gait disturbance Hamartoma of tongue Hypoplasia of the epiglottis Pancreatic fibrosis Shortening of the tibia Polysyndactyly of hallux Polycystic kidney dysplasia Ambiguous genitalia Hepatic fibrosis Focal-onset seizure Disproportionate shortening of the tibia Muscle weakness Postaxial hand polydactyly Cognitive impairment Postaxial polysyndactyly of foot Impaired mastication Bradykinesia Talipes Hip dysplasia Abnormal bleeding Single transverse palmar crease Metabolic acidosis Nephropathy Ichthyosis Pruritus Epistaxis Abnormality of the liver Proteinuria Elevated hepatic transaminase Jaundice Osteopenia Acidosis Hyperkeratosis Dehydration Ventricular hypertrophy Hearing impairment Barrel-shaped chest Giant cell hepatitis Nephrogenic diabetes insipidus Generalized aminoaciduria Lichenification Cholestatic liver disease Conjugated hyperbilirubinemia Right ventricular hypertrophy Cholestasis Renal tubular dysfunction Severe failure to thrive Renal tubular acidosis Diabetes insipidus Aminoaciduria Hyperbilirubinemia Nephrocalcinosis Sensorineural hearing impairment Highly elevated creatine phosphokinase Pulmonary arterial hypertension Limb-girdle muscular dystrophy Abnormality of the periventricular white matter Protruding tongue Weak cry Hypokinesia Myopathic facies Congenital muscular dystrophy Focal impaired awareness seizure Abnormality of visual evoked potentials Poor suck Respiratory insufficiency due to muscle weakness Absence seizures Aspiration Sensorimotor neuropathy Progressive muscle weakness Decreased body weight Hypoventilation Recurrent lower respiratory tract infections Absent muscle fiber merosin Pontocerebellar atrophy Abnormal brainstem MRI signal intensity Intercostal muscle weakness Abnormality of the temporomandibular joint Hypointensity of cerebral white matter on MRI Inferior vermis hypoplasia Increased endomysial connective tissue Cleft lip Diffuse white matter abnormalities Myositis Muscle fiber atrophy Increased connective tissue Cerebral edema Astrocytosis Atelectasis Reduced ejection fraction Abnormal cortical gyration Craniosynostosis Blindness Polydactyly Microcornea Retinal fold Chorioretinal dysplasia Ptosis Downslanted palpebral fissures Long philtrum Coarse facial features Hydronephrosis Telecanthus Joint stiffness Wide mouth Thin vermilion border Wide nose Iris coloboma Highly arched eyebrow Prominent nose Abnormal eyelash morphology Dysphasia Depressed nasal tip Short columella Transient ischemic attack Prominent metopic ridge Long palpebral fissure Long nose Aphasia Specific learning disability Delayed cranial suture closure Hydroureter Trigonocephaly Mutism Large fontanelles Low posterior hairline Vitreoretinopathy Cortical gyral simplification Echolalia Centrally nucleated skeletal muscle fibers Myopia Postnatal growth retardation Prominent nasal bridge Generalized-onset seizure Prominent occiput Severe postnatal growth retardation Colpocephaly Cavum septum pellucidum Type I lissencephaly Thick cerebral cortex Bitemporal hollowing Pain Myopathy Hirsutism Agyria Abnormality of neuronal migration Abnormality of skin pigmentation Aplasia/Hypoplasia of the cerebellum Cone/cone-rod dystrophy Abnormality of retinal pigmentation Optic disc pallor Pigmentary retinopathy Retinal detachment Retinopathy Status epilepticus Protruding ear Glaucoma Microphthalmia Intrauterine growth retardation Visual impairment Central hypotonia Heterochromia iridis Optic nerve coloboma Brachycephaly External ear malformation Macrotia EEG abnormality Abnormality of the eye Abnormality of movement Limitation of joint mobility Neuronal loss in central nervous system Gingival overgrowth Abnormal palate morphology Infantile muscular hypotonia Tented upper lip vermilion Infantile spasms Atrophy/Degeneration affecting the brainstem Drowsiness Epileptic spasms Progressive encephalopathy Visual loss Peripheral dysmyelination Severe short stature Abnormal heart morphology Brachydactyly Delayed speech and language development Cleft palate Undetectable visual evoked potentials Edema of the dorsum of feet Edema of the lower limbs Edema of the dorsum of hands Abnormality of upper lip Peripheral edema Porencephalic cyst Periventricular leukomalacia Developmental stagnation Recurrent respiratory infections Midface retrusion Abnormality of the upper urinary tract Dandy-Walker malformation Subcortical cerebral atrophy Macrogyria Duplication of thumb phalanx Retinoschisis Cerebral cortical hemiatrophy Osteochondrosis Euryblepharon Depressed nasal bridge Behavioral abnormality Clinodactyly Posteriorly rotated ears Upslanted palpebral fissure Camptodactyly Abnormality of the foot Hypotelorism Malar flattening Hypoplasia of the brainstem Kinked brainstem Cerebellar dysplasia Overlapping fingers Cystic hygroma Pericardial effusion Overlapping toe Pleural effusion Apraxia Adducted thumb Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Plagiocephaly Oculomotor apraxia Talipes calcaneovalgus


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