Edema, and Hypoplasia of the maxilla

Diseases related with Edema and Hypoplasia of the maxilla

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


Top matches:

Low match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA 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

Low match ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME


Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

Low match BRANCHIOSKELETOGENITAL SYNDROME


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

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Other less relevant matches:

Low match GREENBERG DYSPLASIA


Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

GREENBERG DYSPLASIA Is also known as skeletal dysplasia, greenberg type|hem dysplasia|moth-eaten skeletal dysplasia|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|chondrodystrophy, hydropic and prenatally le

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GREENBERG DYSPLASIA

Low match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

Low match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Low match FRONTONASAL DYSPLASIA 1; FND1


The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Low match BURULI ULCER, SUSCEPTIBILITY TO


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

Low match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Low match OLIGODONTIA


Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.

OLIGODONTIA Is also known as selective tooth agenesis

Related symptoms:

  • Micrognathia
  • Hypoplasia of the maxilla
  • Microdontia
  • Abnormality of the face
  • Oligodontia


SOURCES: ORPHANET MENDELIAN

More info about OLIGODONTIA

Top 5 symptoms//phenotypes associated to Edema and Hypoplasia of the maxilla

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Short stature Alopecia Brachydactyly Micrognathia Global developmental delay Microcephaly Depressed nasal bridge Micropenis Midface retrusion Microphthalmia Cataract Low-set ears Seizures Cleft lip Intellectual disability, moderate High palate Sensorineural hearing impairment Joint laxity Abnormal heart morphology Hypospadias Hepatomegaly Macrocephaly Ventricular septal defect Ptosis Lymphedema Failure to thrive Delayed eruption of teeth Cleft palate Hernia Single transverse palmar crease Growth hormone deficiency Dilatation Coloboma Synophrys Delayed puberty Pectus excavatum Broad nasal tip Hypothyroidism Malar flattening Calvarial skull defect Downslanted palpebral fissures Anteverted nares Intrauterine growth retardation Wide nasal bridge

Rare Symptoms - Less than 30% cases


Large earlobe Intestinal malrotation Broad palm Narrow nasal bridge Sandal gap Misalignment of teeth Short philtrum Thick eyebrow Postaxial hand polydactyly Postaxial polydactyly Pointed chin Highly arched eyebrow Polydactyly Severe short stature Craniosynostosis Narrow forehead Anteriorly placed anus Abnormality of the vertebral spinous processes Downturned corners of mouth Thick vermilion border Wide nose Clinodactyly Preauricular skin tag Clinodactyly of the 5th finger Growth delay Muscular hypotonia Cardiomyopathy Atrial septal defect Long philtrum Abnormality of cardiovascular system morphology Upslanted palpebral fissure Facial cleft Diabetes mellitus Postnatal growth retardation Oligodontia Small for gestational age Hypotrichosis Underdeveloped nasal alae Convex nasal ridge Generalized hypotonia Broad philtrum Long eyelashes Intellectual disability, mild Abnormality of the face Abnormality of the skeletal system Motor delay Nystagmus Anemia Hypertension Behavioral abnormality Short nose Widow's peak Obesity Thin upper lip vermilion Pes planus Camptodactyly Joint hypermobility Abnormality of the genital system Radial deviation of finger Telecanthus Microdontia Umbilical hernia Abnormality of dental morphology Thin vermilion border Delayed skeletal maturation Narrow philtrum Encephalocele Scrotal hypoplasia Proptosis Reduced number of teeth Fine hair Kyphoscoliosis Anophthalmia Retrognathia Agenesis of permanent teeth Prominent nasal bridge Lacrimation abnormality Iris coloboma Dental malocclusion Abnormal facial shape Recurrent infections Mandibular prognathia Visual impairment Inguinal hernia Brachycephaly Hypogonadism High forehead Hypermetropia Abnormality of the dentition Flexion contracture Short neck Syndactyly Midline skin dimples over anterior/posterior fontanelles Urethrovaginal fistula Abnormality of the larynx Aplasia/Hypoplasia of the earlobes Hypoplasia of the primary teeth Recurrent aphthous stomatitis Malrotation of small bowel Abnormality of the female genitalia Thick hair Iris atrophy Macrodontia Tapetoretinal degeneration Bull's eye maculopathy Talipes Bone spicule pigmentation of the retina Decreased testicular size Diabetes insipidus Preaxial polydactyly Easy fatigability Joint contracture of the hand Facial hypotonia Deep venous thrombosis Heterotopia Oligohydramnios Tetralogy of Fallot Dandy-Walker malformation Macular edema Postural instability Oral cleft Granulocytopenia Conductive hearing impairment Agenesis of corpus callosum Hydrocephalus Talipes equinovarus Furrowed tongue Frontal bossing Epicanthus Anasarca Skin dimples Septate vagina Childhood-onset truncal obesity Narrow palm Dextrocardia Chorioretinal dysplasia Congenital sensorineural hearing impairment High-pitched cry Clitoral hypertrophy Thick corpus callosum Prominent eyelashes Macrodontia of permanent maxillary central incisor Portal hypertension Hydroureter Abnormality of the genitourinary system Widely spaced teeth Hypoplastic philtrum Severe muscular hypotonia Cat cry Hyperbilirubinemia Hypocalcemia Abnormality of the nail Situs inversus totalis Cafe-au-lait spot Hemeralopia Steatorrhea Absent lacrimal punctum Abnormal vagina morphology Increased VLDL cholesterol concentration Congenital neutropenia Colonic diverticula Abnormality of the nares Uterus didelphys Hyperplasia of the maxilla Frontal upsweep of hair Laryngeal stenosis Multiple lipomas Aplasia cutis congenita of scalp Abnormality of the pancreas Glycosuria Rectovaginal fistula Hypoproteinemia Abnormal hair pattern Fair hair Chorioretinal dystrophy Exocrine pancreatic insufficiency Cutis gyrata of scalp Anal stenosis Hypoplastic nipples Hypopituitarism Adrenal insufficiency Coronal craniosynostosis Partial agenesis of the corpus callosum Retinal degeneration Aciduria Prominent nose Short metacarpal Microcornea Neutropenia Tapered finger Retinal detachment Small hand High, narrow palate Retinal dystrophy Abnormality of skin pigmentation Arachnodactyly Progressive visual loss Astigmatism Cerebral hemorrhage Smooth philtrum Joint hyperflexibility Genu valgum Severe global developmental delay Neurological speech impairment Cholestasis Disproportionate tall stature Truncal obesity Stroke Otitis media Pigmentary retinopathy Celiac disease Leukopenia Failure to thrive in infancy Rheumatoid arthritis Intracranial hemorrhage Radioulnar synostosis Precocious puberty Short metatarsal Laryngomalacia Cubitus valgus Recurrent skin infections Venous thrombosis Constriction of peripheral visual field Intellectual disability, progressive Mitral valve prolapse Low anterior hairline Progressive microcephaly Abnormality of retinal pigmentation Gingival overgrowth Exotropia Tall stature Clumsiness Open mouth Lumbar hyperlordosis High myopia Decreased fetal movement Abnormality of the hip bone Nyctalopia Occipital encephalocele Median cleft palate Gingivitis Frontal cutaneous lipoma Lipoma of corpus callosum Cranium bifidum occultum Morning glory anomaly Scleral staphyloma Widely-spaced maxillary central incisors Microglossia Vocal cord paralysis Hypoplastic frontal sinuses Absent tibia Parietal foramina Posterior subcapsular cataract Broad columella Bifid nose Agenesis of cerebellar vermis Alopecia totalis Bifid nasal tip Conical tooth Preaxial foot polydactyly Short columella Meningocele Lipoma Median cleft lip Pectoral muscle hypoplasia/aplasia Midline facial cleft Retinopathy Gastroesophageal reflux Wide mouth Paralysis Protruding ear Respiratory tract infection Feeding difficulties in infancy Weak cry Subcapsular cataract Arthritis Thoracic scoliosis Neonatal hypotonia Macrotia Reduced visual acuity Anterior basal encephalocele Rod-cone dystrophy Cerebellar hypoplasia Visual loss Peripheral visual field loss Thrombocytopenia Kyphosis Blindness Hiatus hernia Respiratory distress Optic atrophy Myopia Finger syndactyly Attention deficit hyperactivity disorder Sparse scalp hair Thoracolumbar scoliosis Thoracolumbar kyphoscoliosis Penoscrotal hypospadias Ureteral stenosis Bladder exstrophy Abnormality of the cervical spine Prominent nasal tip Absent nipple Cleft soft palate Concave nasal ridge Eyelid coloboma Megalocornea Phthisis bulbi Premature loss of teeth Submucous cleft hard palate Thickened calvaria Abnormality of the vertebral column Mixed hearing impairment Keratitis Bifid scrotum Cutaneous syndactyly Wide intermamillary distance Bifid uvula Multiple impacted teeth Periorbital wrinkles Facial asymmetry Amelia involving the lower limbs Cardiomegaly Limb undergrowth Pulmonary hypoplasia Micromelia Narrow chest Platyspondyly Hepatosplenomegaly Skeletal dysplasia Polyhydramnios Splenomegaly Advanced pneumatization of the mastoid process Submucous cleft soft palate Upper limb peromelia Lagopthalmos Abnormality of the shape of the midface Abnormality of dentin Unilateral cleft palate Rootless teeth Blepharochalasis Abnormality of the sella turcica Dentinogenesis imperfecta limited to primary teeth Absent external genitalia Attached earlobe Flat face Carious teeth Omphalocele Diastema Osteopenia Hyperkeratosis Osteoporosis Respiratory insufficiency Absent paranasal sinuses Aplasia of the nose Frontal encephalocele Aplasia/Hypoplasia involving the nose Abnormality of the sense of smell Lacrimal duct stenosis Hypoplasia of teeth Scarring Hyposmia Hypoplastic labia majora Preauricular pit Limb-girdle muscular dystrophy Anosmia Hypogonadotrophic hypogonadism Choanal atresia Primary amenorrhea Muscular dystrophy Corneal opacity Sparse hair Recurrent fractures Broad forehead Prematurely aged appearance Pectus carinatum Low-set, posteriorly rotated ears Glaucoma Posteriorly rotated ears Thin calvarium Increased thyroid-stimulating hormone level Osteolytic defects of the phalanges of the hand Shallow orbits Narrow nose Striae distensae Slender long bone Abnormality of the skin Lipoatrophy Long nose Delayed cranial suture closure Flat occiput Pterygium Dermal atrophy Cachexia Growth abnormality Wormian bones Thin skin Hypotelorism Abnormal form of the vertebral bodies Bowing of the long bones Hypoplasia of penis Cleft upper lip Interstitial pulmonary abnormality Mild short stature Increased intracranial pressure Generalized-onset seizure Round face Hypodontia Short foot Short palm Polymicrogyria Cirrhosis Pulmonic stenosis Shawl scrotum Abdominal pain Hyperactivity Depressivity Pain Patchy variation in bone mineral density Sternal punctate calcifications Anterior rib punctate calcifications Abnormal ossification involving the femoral head and neck Supernumerary vertebral ossification centers Laryngeal calcification Macrocytic anemia Hypoplasia of the odontoid process Abnormality of the calcaneus Intellectual disability, severe Generalized muscle weakness Abdominal distention Hepatic failure Anal atresia Malabsorption Dilated cardiomyopathy Abnormal cardiac septum morphology Abnormality of the liver Hydronephrosis Elevated hepatic transaminase Fatigue Broad foot Cognitive impairment Cervical spine hypermobility Curved linear dimple below the lower lip Increased upper to lower segment ratio Prominent umbilicus Frontoparietal polymicrogyria Osteochondritis Dissecans Hyperextensibility of the finger joints Volvulus Short 5th finger Genu recurvatum Tracheal calcification Punctate vertebral calcifications Short phalanx of finger Epiphyseal stippling Lethal skeletal dysplasia 11 pairs of ribs Large forehead Hypoplastic fingernail Nonimmune hydrops fetalis Decreased skull ossification Preeclampsia Barrel-shaped chest Postaxial foot polydactyly Abnormal lung lobation Abnormal joint morphology Extramedullary hematopoiesis Cystic hygroma Mesomelia Thoracic hypoplasia Flared metaphysis Pleural effusion Disproportionate short-limb short stature Abnormality of the fingernails Bone marrow hypocellularity Short ribs Hydrops fetalis Rhizomelia Ulnar deviation of the hand Metaphyseal cupping Abnormal foot bone ossification Abnormal leukocyte morphology Hepatic calcification Abnormal pelvis bone ossification Absent or minimally ossified vertebral bodies Short diaphyses Horizontal sacrum Abnormality of the scapula Abnormality of cholesterol metabolism Abnormality of the orbital region Ectopic ossification Aplasia/hypoplasia of the extremities Severe hydrops fetalis Diaphyseal thickening Severe short-limb dwarfism Abnormally ossified vertebrae Multiple prenatal fractures Abnormal bone ossification Absent toenail Vertebral hypoplasia Sclerosis of skull base Hypoplastic vertebral bodies Pancreatic islet-cell hyperplasia Long clavicles Ectopic calcification Slender toe



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