Edema, and Macrotia

Diseases related with Edema and Macrotia

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


Top matches:

Low match X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE


X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE Is also known as shashi x-linked mental retardation syndrome|syndromic x-linked intellectual disability type 11|smrxs|mental retardation, x-linked, shashi type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 3


Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

Low match CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES


Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Low match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1


Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 Is also known as ihprf

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

Low match BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

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

Low match COMPLEX LETHAL OSTEOCHONDRODYSPLASIA


Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Is also known as complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMPLEX LETHAL OSTEOCHONDRODYSPLASIA

Low match MONOSOMY 22Q13


Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

Low match BARTH SYNDROME


Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.

BARTH SYNDROME Is also known as bths|3-methylglutaconic aciduria type 2|mgca2|x-linked cardioskeletal myopathy and neutropenia|cardioskeletal myopathy with neutropenia and abnormal mitochondria|mga2|mga, type ii|cardioskeletal myopathy-neutropenia syndrome|3-methylglutaconic aciduria, t

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BARTH SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Macrotia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Full cheeks Flexion contracture Neonatal hypotonia Pulmonary hypoplasia Growth delay Low-set ears Brachycephaly Epicanthus Hyperreflexia Optic atrophy Cerebellar hypoplasia Short stature Hydronephrosis Osteopenia Short nose Hearing impairment Failure to thrive Wide nasal bridge Respiratory distress Feeding difficulties Malar flattening Dilatation Prominent forehead Gastroesophageal reflux Palpebral edema Cerebellar atrophy

Rare Symptoms - Less than 30% cases


Ventricular arrhythmia Umbilical hernia Respiratory failure Retrognathia Cardiomyopathy Diarrhea Small for gestational age Dehydration Strabismus Deeply set eye Abnormal facial shape Absent speech Constipation Hyperactivity Broad forehead Hydrops fetalis Polyhydramnios Triangular face Infantile muscular hypotonia Congestive heart failure Ventricular septal defect Hypertrophic cardiomyopathy Macrocephaly Arrhythmia Acidosis Hypertelorism Midface retrusion Muscular hypotonia of the trunk Bulbous nose Cerebral atrophy Long philtrum Scoliosis Hypoplasia of the corpus callosum Talipes equinovarus Depressed nasal bridge Ventriculomegaly Specific learning disability Anteverted nares Hypsarrhythmia Progressive microcephaly Obesity Delayed speech and language development Feeding difficulties in infancy Progressive encephalopathy Encephalopathy Cardiomegaly Tapered finger Brain atrophy Limb undergrowth Limitation of joint mobility Webbed neck Ascites Recurrent fractures Short ribs Developmental stagnation Wormian bones Polymicrogyria Disproportionate short-limb short stature Adducted thumb Pleural effusion Flared metaphysis Thoracic hypoplasia Single umbilical artery Abnormality of movement Decreased skull ossification Abnormality of eye movement Short femur Arthrogryposis multiplex congenita Unilateral cleft lip Multiple prenatal fractures Neuronal loss in central nervous system Telecanthus Flat face Infantile encephalopathy Abnormality of upper lip Peripheral edema Abnormal palate morphology Tented upper lip vermilion Infantile spasms Biparietal narrowing Porencephalic cyst Edema of the dorsum of hands Beaded ribs Atrophy/Degeneration affecting the brainstem Drowsiness Epileptic spasms External ear malformation Edema of the lower limbs Severe muscular hypotonia Edema of the dorsum of feet Platyspondyly Posteriorly rotated ears Narrow forehead Cleft lip Intellectual disability, profound Periventricular leukomalacia Open mouth Micropenis Pachygyria Peripheral dysmyelination Hypospadias Short neck Intrauterine growth retardation Cleft palate Gingival overgrowth Undetectable visual evoked potentials Large fleshy ears Large hands Multiple rib fractures Eczema Poor appetite Myopathic facies Abnormality of mitochondrial metabolism Easy fatigability Hyperammonemia Recurrent bacterial infections Exercise intolerance Spontaneous abortion Aciduria Organic aciduria Round face Sudden cardiac death Sepsis Neutropenia Lactic acidosis Talipes Delayed puberty Ophthalmoplegia Lethargy Mitochondrial myopathy Left ventricular noncompaction Stroke Prolonged QTc interval Recurrent infections in infancy and early childhood Increased mitochondrial number Cyclic neutropenia Agranulocytosis Abnormal mitochondrial shape Abnormal mitochondrial morphology Monocytosis Pyoderma Abnormal endocardium morphology Decreased plasma carnitine Granulocytopenia Abnormality of neutrophils 3-Methylglutaconic aciduria Hypocholesterolemia Abnormality of the mitochondrion Endocardial fibroelastosis Skeletal myopathy Left ventricular failure Recurrent aphthous stomatitis Dilated cardiomyopathy Protruding ear Fractured radius Sleep disturbance Pointed chin Lymphedema Hypohidrosis Dental crowding Long eyelashes Renal dysplasia Dental malocclusion Vesicoureteral reflux Thick eyebrow Sacral dimple Nausea and vomiting Hypermetropia Dolichocephaly Autistic behavior Agenesis of corpus callosum Clinodactyly of the 5th finger Immunodeficiency Ptosis Decreased fibular diameter Accelerated skeletal maturation Recurrent skin infections Facial palsy Gait disturbance Proximal muscle weakness Hypoglycemia Mandibular prognathia Abnormal heart morphology Pectus excavatum Recurrent infections Myopathy Fatigue Peripheral neuropathy EEG abnormality Motor delay Muscle weakness Recurrent pyelonephritis Hair-pulling Cerebellar cortical atrophy Bruxism Arachnoid cyst Impaired pain sensation Hypoplastic toenails Abnormality of the eye Polydipsia Cerebral cortical atrophy Bladder diverticulum Atrial septal defect Respiratory insufficiency Hepatomegaly Hypertension Bronchomalacia Rectal prolapse Periorbital edema Peripheral pulmonary artery stenosis Renal insufficiency Premature skin wrinkling Pulmonary artery stenosis Tracheomalacia Prematurely aged appearance Emphysema Patent foramen ovale Pyloric stenosis Splenomegaly Hepatosplenomegaly Cutis laxa Abnormal lung morphology Multiple renal cysts Enlarged kidney Portal hypertension Polycystic kidney dysplasia Chronic kidney disease Renal hypoplasia/aplasia Hepatic fibrosis Cholestasis Low-set, posteriorly rotated ears Depressed nasal ridge Oligohydramnios Renal cyst Stage 5 chronic kidney disease Scarring Abnormality of the liver Abnormality of the kidney Laryngomalacia Sandal gap Atelectasis Prominent supraorbital ridges Proptosis Visual impairment High palate Spasticity Ataxia Periorbital fullness Macroorchidism Narrow palpebral fissure Dyskinesia Thick lower lip vermilion Bilateral sensorineural hearing impairment Everted lower lip vermilion Blepharophimosis Intellectual disability, moderate Coarse facial features Sensorineural hearing impairment Downturned corners of mouth High, narrow palate Microretrognathia Inguinal hernia Large fontanelles Recurrent urinary tract infections Congenital diaphragmatic hernia Sloping forehead Convex nasal ridge Sparse hair Joint laxity Hernia Underdeveloped nasal alae Pontocerebellar atrophy Hypoplasia of the pons Thoracic scoliosis Long palpebral fissure Hypoplasia of the brainstem Poor head control Elbow flexion contracture Decreased body weight Chronic lung disease Esophageal varix Myoclonus Renal salt wasting Increased circulating renin level Impaired platelet aggregation Metabolic alkalosis Tetany Chondrocalcinosis Alkalosis Abnormally large globe Hypomagnesemia Pseudohypoaldosteronism Hyperaldosteronism Hyperthyroidism Hyperkalemia Polyuria Hypercalciuria Hypokalemia Nephrocalcinosis Hypocalciuria Hypokalemic metabolic alkalosis Generalized muscle weakness Increased serum prostaglandin E2 Recurrent respiratory infections Visual loss Blindness Intellectual disability, severe Hydrocephalus Low-to-normal blood pressure Renal juxtaglomerular cell hypertrophy/hyperplasia Hyperprostaglandinuria Hypokalemic alkalosis Hyperchloriduria Hyperactive renin-angiotensin system Fetal polyuria Increased urinary potassium Renal potassium wasting Hypochloremia Hyposthenuria Premature birth Muscle cramps Cholangitis Potter facies Skeletal muscle atrophy Cryptorchidism Nystagmus Absence of renal corticomedullary differentiation Azotemia Hypoplasia of the ear cartilage Periportal fibrosis Hematemesis Developmental regression Hypersplenism Portal fibrosis Biliary tract abnormality Tubulointerstitial fibrosis Hepatic cysts Pancreatic cysts Congenital hepatic fibrosis Thin upper lip vermilion Postnatal growth retardation Paresthesia Spastic tetraparesis Vomiting Frontal bossing Fever Pain Slender nose Poor eye contact Decreased motor nerve conduction velocity Tetraparesis Wide mouth Spastic tetraplegia Neurodegeneration Smooth philtrum Poor speech Abnormality of the cerebral white matter Severe global developmental delay Pectus carinatum Abnormal pyramidal sign Intermittent lactic acidemia



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