Edema, and Choanal atresia

Diseases related with Edema and Choanal atresia

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

Top matches:

Related symptoms:

  • High palate
  • Pectus excavatum
  • Choanal atresia
  • Lymphedema
  • Pericardial effusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA SYNDROME

McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome|kaufman-mckusick syndrome|hmcs|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

Related symptoms:

  • Cryptorchidism
  • Abnormality of the skeletal system
  • Respiratory distress
  • Edema
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME; MKKS

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:

Low match GAPO SYNDROME

GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

GAPO SYNDROME Is also known as growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|odontotrichomelic syndrome|growth retardation, alopecia, pseudoanodontia, and optic atrophy

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAPO SYNDROME

Low match FRYNS SYNDROME

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

FRYNS SYNDROME Is also known as diaphragmatic hernia, abnormal face, and distal limb anomalies|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRYNS SYNDROME

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

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-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Congnital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (OMIM ) and Poland syndrome (OMIM ) (summary by Papadimitriou et al., 2009). Genetic Heterogeneity of Aplasia or Hypoplasia of Breasts and/or NipplesAn autosomal recessive form of breast and/or nipple aplasia or hypoplasia (BNAH2 ) is caused by mutation in the PTPRF gene (OMIM ) on chromosome 1p34.

ISOLATED CONGENITAL BREAST HYPOPLASIA/APLASIA Is also known as athelia|amazia|amastia|isolated congenital amastia

Related symptoms:

  • Ectodermal dysplasia
  • Choanal atresia
  • Hyperthyroidism
  • Aplasia/Hypoplasia of the nipples
  • Absent nipple


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CONGENITAL BREAST HYPOPLASIA/APLASIA

Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Downslanted palpebral fissures
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 2; TCS2

Top 5 symptoms//phenotypes associated to Edema and Choanal atresia

Symptoms // Phenotype % cases
High palate Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Hypospadias Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Hypoplastic nipples Hypertelorism Anteverted nares Abnormality of cardiovascular system morphology Intellectual disability Long philtrum Low-set ears Intestinal malrotation Glaucoma Microphthalmia Congenital diaphragmatic hernia Cleft lip Premature birth Ventricular septal defect Low-set, posteriorly rotated ears Gastroesophageal reflux Atrial septal defect Short neck Ventriculomegaly Proximal placement of thumb Microcephaly Seizures Short stature Nystagmus Depressed nasal bridge Multicystic kidney dysplasia Cataract Micropenis Aganglionic megacolon Pulmonary hypoplasia Primary amenorrhea Hydronephrosis Postaxial polydactyly

Rare Symptoms - Less than 30% cases

Scoliosis Generalized hypotonia Sensorineural hearing impairment Aplasia/Hypoplasia of the nipples Flexion contracture Wide nasal bridge Strabismus Hydrocephalus Clinodactyly of the 5th finger Cerebellar hypoplasia Global developmental delay Muscular hypotonia Hypoplastic areola Conductive hearing impairment Abnormality of the outer ear Ptosis Intrauterine growth retardation Abnormal form of the vertebral bodies Intellectual disability, severe Hypertonia Short nose Small nail Ectodermal dysplasia Delayed eruption of teeth Attention deficit hyperactivity disorder Cleft upper lip Autism Cerebral cortical atrophy Retrognathia Polyhydramnios Hypoplasia of penis Aplasia/Hypoplasia of the cerebellum Cutis marmorata Increased nuchal translucency Pectus excavatum Oligodactyly Downslanted palpebral fissures Bifid scrotum Pyloric stenosis Atresia of the external auditory canal Short thumb Amblyopia Absent nipple Gastroschisis Sleep disturbance Bicornuate uterus Bilateral choanal atresia Intellectual disability, profound Coarctation of aorta Limb undergrowth Dandy-Walker malformation Micromelia Renal agenesis Wide intermamillary distance Toe syndactyly Hip dislocation Vesicoureteral reflux Renal cyst Wide mouth Failure to thrive Broad forehead Feeding difficulties in infancy Corneal opacity Myopia Esophageal atresia Scrotal hypoplasia Reduced number of teeth Hypoplastic labia majora Iris coloboma Delayed puberty Synophrys Postaxial hand polydactyly Tetralogy of Fallot Anophthalmia Anal atresia Growth delay Amenorrhea Optic atrophy Abnormality of the skeletal system Delayed skeletal maturation Lymphedema Visual impairment Midface retrusion Polydactyly Hernia Hydroureter Respiratory distress Syndactyly Hypogonadism Coloboma Abnormality of the gallbladder Prenatal movement abnormality Hypoplasia of the frontal lobes Phthisis bulbi Abnormal facial shape Brachydactyly Spasticity Feeding difficulties Hypertension Epicanthus Abnormally low-pitched voice Patent ductus arteriosus Fever Recurrent infections Severe short stature Mesomelic short stature Median cleft palate Constipation Hip subluxation Abnormal heart morphology Kyphosis Periventricular gray matter heterotopia Behavioral abnormality Diarrhea Vomiting Increased serum testosterone level Talipes calcaneovalgus Hypoplasia of the corpus callosum Talipes equinovarus Curly eyelashes Truncal obesity Septate vagina Thick eyebrow Hip dysplasia Microcornea Hyperthyroidism Highly arched eyebrow Anhidrotic ectodermal dysplasia Short foot Small hand Downturned corners of mouth Thin vermilion border Abnormality of limbs Talipes Aplasia/Hypoplasia of the breasts Malar flattening Microtia Neurological speech impairment Facial asymmetry Choanal stenosis Joint stiffness Elevated 7-dehydrocholesterol Low posterior hairline Volvulus Obsessive-compulsive behavior Abnormality of the uterus Short 1st metacarpal Abnormality of the ulna Severe postnatal growth retardation Blepharitis Upslanted palpebral fissure Sleep-wake cycle disturbance Alveolar ridge overgrowth Severe photosensitivity Long eyelashes Elbow dislocation Radioulnar synostosis Opsoclonus Widely spaced teeth Generalized hirsutism Facial capillary hemangioma Bilateral single transverse palmar creases Low anterior hairline Posteriorly rotated ears Upper limb undergrowth Hyperactivity Optic nerve hypoplasia Hammertoe Clitoral hypertrophy Self-injurious behavior Hyponatremia Precocious puberty Poor suck Abnormality of the urinary system Abnormality of the metacarpal bones Abnormality of dental morphology Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Abnormal dermatoglyphics Hypercholesterolemia Holoprosencephaly Abnormality of dental enamel Severe failure to thrive Short toe Unilateral renal agenesis Metatarsus adductus Rhizomelia Postaxial foot polydactyly Severe intrauterine growth retardation Abnormal lung lobation Epiphyseal stippling Hypopigmentation of hair Aplasia/Hypoplasia of the radius Self-mutilation Ulnar deviation of finger Increased number of teeth Biparietal narrowing Microglossia Male pseudohermaphroditism Abnormality of digit Atrioventricular canal defect Mesomelia Hyperkalemia Adrenal insufficiency 2-3 toe syndactyly Overlapping toe Gingival overgrowth Dental crowding Proptosis Finger syndactyly Decreased circulating aldosterone level Eczema Narrow forehead Peripheral demyelination Advanced eruption of teeth Webbed neck Hypopigmentation of the skin Ureteropelvic junction obstruction Autistic behavior Abnormal localization of kidney Abnormality of the kidney Intellectual disability, moderate Aggressive behavior Hypoglycemia Skeletal dysplasia Ectopic calcification Abnormal eyelash morphology Broad alveolar ridges Hypocholesterolemia Ambiguous genitalia Abnormality of the genital system Cholestatic liver disease Sclerocornea Split hand Tracheal stenosis Excessive daytime somnolence Sex reversal Overlapping fingers Bifid tongue Breech presentation Recurrent otitis media Oligohydramnios Abnormality of the larynx Gastrointestinal dysmotility Abnormal renal morphology Cutaneous photosensitivity Renal hypoplasia Abnormality of the ribs Decreased fetal movement Aplasia/Hypoplasia affecting the eye Hyperbilirubinemia Overweight Anxiety Abnormality of the pinna Sparse eyelashes Aminoaciduria Sparse and thin eyebrow Nephrolithiasis Abnormality of the metaphysis Everted lower lip vermilion Joint hyperflexibility Hypotrichosis EEG abnormality Abnormal palate morphology Umbilical hernia High forehead Mandibular prognathia Hyperhidrosis Alopecia Arrhythmia Abnormality of the dentition Frontal bossing Atherosclerosis Hemangioma Aplasia of the nose Palpebral edema Fingernail dysplasia Nasolacrimal duct obstruction Abnormality of the cerebral vasculature Abnormality of the neck Oligospermia Decreased skull ossification Skin tags Abnormality of the clavicle Underdeveloped supraorbital ridges Increased intracranial pressure Ectrodactyly Prematurely aged appearance Keratoconus Abnormality of the thorax Sparse eyebrow Hyperextensible skin Abnormality of pelvic girdle bone morphology Hypopigmented skin patches Absent paranasal sinuses Frontal encephalocele Asymmetry of the thorax Tracheoesophageal fistula Transverse vaginal septum Hydrometrocolpos Penoscrotal hypospadias Chordee Vaginal atresia Rectovaginal fistula Nonimmune hydrops fetalis Edema of the lower limbs Polycystic kidney dysplasia Prominent scrotal raphe Congenital hip dislocation Abnormal vertebral morphology Hydrops fetalis Abdominal distention Rod-cone dystrophy Obesity Posterior choanal atresia Pericardial effusion Mesoaxial hand polydactyly Vesicovaginal fistula Aplasia/Hypoplasia involving the nose Limb-girdle muscular dystrophy Abnormality of the sense of smell Lacrimal duct stenosis Diastema Hypoplasia of teeth Lacrimation abnormality Hyposmia Agenesis of permanent teeth Preauricular pit Anosmia Pelvic mass Hypogonadotrophic hypogonadism Encephalocele Dental malocclusion Broad nasal tip Hypoplasia of the maxilla Muscular dystrophy Inguinal hernia Hydrocolpos Thick nasal alae Dysmenorrhea Macrotia Ectopic anus Ureteral duplication Bifid nose Cystic renal dysplasia Ovarian cyst Abnormality of the helix Broad ribs Hypoplastic fingernail Duodenal atresia Asplenia Abnormal aortic morphology Abnormality of finger Retinal dysplasia Bilateral cleft lip and palate Polysplenia Truncus arteriosus Bilateral cleft lip Thickened nuchal skin fold Broad neck Interrupted aortic arch Chylothorax Shawl scrotum Facial hirsutism Brachycephaly Renal insufficiency Peripheral neuropathy Hypoplasia of the optic tract Ectopic pancreatic tissue Absent left hemidiaphragm Postaxial oligodactyly Hypoplasia of olfactory tract Abnormal aortic arch morphology Aplasia cutis congenita of scalp Broad clavicles Urethral stricture Abnormality of the diaphragm Prominent fingertip pads Gastroparesis Meckel diverticulum Shortening of all distal phalanges of the fingers Arrhinencephaly Median cleft lip Atrophy/Degeneration affecting the brainstem Tetraamelia Thin upper lip vermilion Short distal phalanx of finger Narrow chest Severe global developmental delay Abnormal cardiac septum morphology Blepharophimosis Abnormality of the eye Camptodactyly Abnormality of the nervous system Coarse facial features Gliosis Myoclonus Agenesis of corpus callosum Areflexia Clinodactyly Dilatation Blindness Macrocephaly Early balding Single transverse palmar crease Depressed nasal ridge Thin ribs Pterygium Cystic hygroma Partial agenesis of the corpus callosum Non-midline cleft lip Hypoplasia of the uterus Thoracic hypoplasia Anonychia Large for gestational age Rocker bottom foot Tented upper lip vermilion Omphalocele Abnormality of the genitourinary system Microretrognathia Narrow palpebral fissure Opacification of the corneal stroma Finger clinodactyly Joint contracture of the hand Renal dysplasia Abnormality of the face Heterotopia Bilateral conductive hearing impairment


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