Edema, and Synophrys

Diseases related with Edema and Synophrys

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

Top matches:

Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

Related symptoms:

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Other less relevant matches:

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.

BRANCHIOSKELETOGENITAL SYNDROME Is also known as hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|elsahy-waters syndrome|brachioskeletogenital syndrome|bsg syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRANCHIOSKELETOGENITAL SYNDROME

Medium match ACROMEGALY

Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Top 5 symptoms//phenotypes associated to Edema and Synophrys

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Microcephaly Hypospadias Midface retrusion Low-set ears Hearing impairment Highly arched eyebrow Cataract Abnormal facial shape Upslanted palpebral fissure Anxiety High palate Abnormality of the dentition Delayed eruption of teeth Inguinal hernia Wide nasal bridge Scoliosis Micrognathia Widely spaced teeth Dental malocclusion Cerebral cortical atrophy Thin vermilion border Short philtrum Intrauterine growth retardation Ventriculomegaly Depressed nasal bridge Failure to thrive Cleft palate Anteverted nares Sensorineural hearing impairment Downturned corners of mouth Macroglossia Posteriorly rotated ears Brachycephaly Thick eyebrow Mandibular prognathia Tapered finger Generalized hirsutism

Rare Symptoms - Less than 30% cases

Abnormality of the kidney Full cheeks Low-set, posteriorly rotated ears Cirrhosis Wide mouth Atrial septal defect Patent ductus arteriosus Thrombocytopenia Ventricular septal defect Hoarse voice Broad forehead Wide nose Anemia Growth delay Small hand Recurrent infections Sleep disturbance Frontal bossing Narrow forehead Pectus excavatum Generalized hypotonia Paresthesia Glaucoma Short neck Macrotia High forehead Microcornea Downslanted palpebral fissures Thin upper lip vermilion Phthisis bulbi Intellectual disability, moderate Cerebral palsy Poor suck Malar flattening Deep palmar crease Hydronephrosis Ataxia Palpebral edema Short nose Delayed puberty Coloboma Cleft lip Micropenis Myopia Hernia Peripheral neuropathy Nystagmus Short stature Large hands Broad nasal tip Thickened skin Thick lower lip vermilion Bulbous nose Coarse facial features Proximal placement of thumb Protein-losing enteropathy Abnormal intestine morphology Lymphedema Flat face Hepatosplenomegaly Polyhydramnios Hypoplasia of the maxilla Retinal detachment Primary amenorrhea Hypoplastic labia majora Clinodactyly Conductive hearing impairment Abnormality of cardiovascular system morphology Hypoplasia of the corpus callosum Prominent forehead Gastroesophageal reflux Clinodactyly of the 5th finger Long philtrum Behavioral abnormality Choanal atresia Ptosis Truncal obesity Retinal dysplasia Hypoplastic nipples Feeding difficulties in infancy Oligodactyly Cutis marmorata Autism Blepharitis Congenital nystagmus Abnormality of the ulna Severe postnatal growth retardation Feeding difficulties Areflexia Obesity Abnormality of metabolism/homeostasis Brachydactyly Epicanthus Motor delay Delayed speech and language development Pain Mild microcephaly Abnormally low-pitched voice Prenatal movement abnormality Curly eyelashes Increased nuchal translucency Volvulus Abnormality of the uterus Short 1st metacarpal Aplasia/Hypoplasia of the cerebellum Total anomalous pulmonary venous return Obsessive-compulsive behavior Low posterior hairline Pyloric stenosis Atresia of the external auditory canal Multicystic kidney dysplasia Bilateral single transverse palmar creases Low anterior hairline Long eyelashes Congenital diaphragmatic hernia Intellectual disability, severe Hypoplasia of penis Hip dysplasia Talipes Intestinal malrotation Premature birth Micromelia Vesicoureteral reflux Hypertonia Toe syndactyly Joint stiffness Abnormal heart morphology Anomalous pulmonary venous return Short foot Elbow dislocation Increased mean platelet volume Macrothrombocytopenia Radioulnar synostosis Intestinal lymphangiectasia Hip dislocation Delayed skeletal maturation Flared nostrils Eversion of lateral third of lower eyelids Muscular hypotonia Attention deficit hyperactivity disorder Renal insufficiency Neurological speech impairment Hyporeflexia Abnormality of the outer ear Constipation Premature atrial contractions Alopecia Sleep-wake inversion Frequent temper tantrums Head-banging Abnormality of the forearm Midline brain calcifications Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Hyperacusis Erythema Mood changes Recurrent aspiration pneumonia Excessive daytime sleepiness Velopharyngeal insufficiency Everted upper lip vermilion Recurrent ear infections Cavum septum pellucidum Abnormal renal morphology Abnormality of the larynx Broad face Carcinoma Abnormality of the liver Duodenal atresia Fragile skin Porphyrinuria Viral hepatitis Facial hypertrichosis Congenital hypoplastic anemia Alcoholism Anemia of inadequate production Onycholysis Atypical scarring of skin Hepatocellular carcinoma Scleroderma Skin vesicle Skin rash Hypopigmented skin patches Hyperpigmentation of the skin Thin skin Inflammatory abnormality of the skin Hypertrichosis Cutaneous photosensitivity Hepatitis Abnormal blistering of the skin Sudden cardiac death Hepatic steatosis Hemolytic anemia Thick upper lip vermilion Bruxism Pes cavus Oral cleft Broad-based gait Hypertriglyceridemia Decreased fetal movement Abnormality of the cardiovascular system Otitis media Esotropia Single transverse palmar crease Nephropathy Short palm Falls Dry skin Pachygyria Lethargy Microtia Paralysis Hyperlordosis Aggressive behavior Deeply set eye EEG abnormality Pes planus Hypothyroidism Hyperactivity Omphalocele Heterotopia Short attention span Open bite Chronic constipation Self-mutilation Overweight Drowsiness Protruding tongue Impaired pain sensation Broad palm Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Impulsivity Hypoplasia of dental enamel Self-injurious behavior Abnormality of the urinary system Sacral dimple Drooling Abnormality of the sternum Hypercholesterolemia Lissencephaly Increased body weight Abnormal vertebral morphology Sinusitis Stereotypy Abnormality of the periventricular white matter Neoplasm of the endocrine system Pericardial effusion Dextrocardia Abnormality of glutamine metabolism Increased serum bile acid concentration Abnormality of the clitoris Infra-orbital crease Functional respiratory abnormality Micronodular cirrhosis Biventricular hypertrophy Premature skin wrinkling Clitoral hypertrophy Proptosis Patent foramen ovale Deep philtrum Cutis laxa Situs inversus totalis Hydrops fetalis Decreased liver function Wide anterior fontanel Hepatic fibrosis Telangiectasia Syndactyly Umbilical hernia Coarctation of aorta Keratitis Thoracolumbar scoliosis Megalocornea Premature loss of teeth Submucous cleft hard palate Anteriorly placed anus Thickened calvaria Abnormality of the vertebral column Mixed hearing impairment Bifid scrotum Telecanthus Cutaneous syndactyly Pointed chin Wide intermamillary distance Bifid uvula Thick vermilion border Facial asymmetry Carious teeth Pectus carinatum Craniosynostosis Pancytopenia Oligohydramnios Large earlobe Abnormality of the tongue Iris coloboma Muscular dystrophy Corneal opacity Hypogonadism Microphthalmia Visual impairment Abnormal lip morphology Thick nasal alae Craniofacial hyperostosis Hypogonadotrophic hypogonadism Long nose Abnormality of the metacarpal bones Gingival overgrowth Sloping forehead Everted lower lip vermilion Joint hyperflexibility Blepharophimosis Intellectual disability, mild Facial edema Encephalocele Scrotal hypoplasia Asthma Abnormality of the sense of smell Abnormal bleeding Triangular face Small for gestational age Splenomegaly Hepatomegaly Absent paranasal sinuses Aplasia of the nose Frontal encephalocele Aplasia/Hypoplasia involving the nose Lacrimal duct stenosis Anosmia Diastema Hypoplasia of teeth Lacrimation abnormality Hyposmia Agenesis of permanent teeth Preauricular pit Anophthalmia Limb-girdle muscular dystrophy Reduced number of teeth Eyelid coloboma Concave nasal ridge Overlapping toe Galactorrhea Flexion contracture Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Macrodactyly Dysmenorrhea Pituitary prolactin cell adenoma Deep plantar creases Hypersomnia Abnormality of the skeletal system Paraganglioma Long penis Pheochromocytoma Anterior hypopituitarism Dysuria Abnormality of the endocrine system Abnormal toenail morphology Broad foot Growth hormone excess Optic atrophy Cerebellar atrophy Spinal canal stenosis Renal agenesis Unilateral renal agenesis Sparse eyebrow Hypoalbuminemia Tented upper lip vermilion Progressive microcephaly Exotropia Bilateral sensorineural hearing impairment Dandy-Walker malformation Webbed neck Immunodeficiency Nevus Ascites Smooth philtrum Pulmonic stenosis Abnormal cardiac septum morphology Camptodactyly Reduced visual acuity Cerebellar hypoplasia Absent speech Joint swelling Generalized hyperpigmentation Cleft soft palate Attached earlobe Abnormality of dentin Abnormality of the vertebral spinous processes Unilateral cleft palate Rootless teeth Blepharochalasis Abnormality of the sella turcica Dentinogenesis imperfecta limited to primary teeth Absent external genitalia Submucous cleft soft palate Lagopthalmos Periorbital wrinkles Multiple impacted teeth Thoracolumbar kyphoscoliosis Penoscrotal hypospadias Ureteral stenosis Bladder exstrophy Abnormality of the cervical spine Prominent nasal tip Absent nipple Abnormality of the shape of the midface Upper limb peromelia Impotence Long face Acne Growth abnormality Sleep apnea Acanthosis nigricans Abnormality of the fingernails Tall stature Mitral regurgitation Osteoarthritis Migraine Hypertrophic cardiomyopathy Advanced pneumatization of the mastoid process Arthralgia Diabetes mellitus Hyperhidrosis Depressivity Kyphosis Fatigue Hypertension Neoplasm Amelia involving the lower limbs Hyperpigmentation in sun-exposed areas


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