Edema, and Dandy-Walker malformation

Diseases related with Edema and Dandy-Walker malformation

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


Top matches:

Medium match ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS


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

Medium match SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE


Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.

SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE Is also known as short rib-polydactyly syndrome type 3

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE

Medium match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

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Other less relevant matches:

Medium match FETAL AKINESIA DEFORMATION SEQUENCE


The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

Medium match SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE


Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Medium match X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA


X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-h√únermann-happle syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

Medium match NEU-LAXOVA SYNDROME


Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

Medium match MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME


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

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Medium 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

Top 5 symptoms//phenotypes associated to Edema and Dandy-Walker malformation

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Talipes equinovarus Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Edema and Dandy-Walker malformation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus

Common Symptoms - More than 50% cases


Cataract

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Microphthalmia Intrauterine growth retardation Short neck Intellectual disability Hearing impairment Posteriorly rotated ears Frontal bossing Long philtrum Abnormality of cardiovascular system morphology Camptodactyly Polyhydramnios Cerebellar hypoplasia Clinodactyly Abnormality of the skeletal system Flexion contracture Ventriculomegaly Abnormality of the pinna Global developmental delay Generalized hypotonia High palate Ambiguous genitalia Short stature Seizures Wide nasal bridge Hydrocephalus Upslanted palpebral fissure Pulmonary hypoplasia Polydactyly Ptosis Downslanted palpebral fissures Talipes Patent ductus arteriosus Ventricular septal defect Wide nose Cleft upper lip Kyphosis Cleft lip Blepharophimosis Telecanthus Limb undergrowth Growth delay Short palpebral fissure Intellectual disability, mild Ascites Abnormal heart morphology Inguinal hernia Flat face High forehead Nystagmus Scrotal hypoplasia Respiratory insufficiency Strabismus Arthrogryposis multiplex congenita Overlapping toe Agenesis of corpus callosum Hydronephrosis

Rare Symptoms - Less than 30% cases


Clinodactyly of the 5th finger Alopecia Pterygium Abnormality of pelvic girdle bone morphology Coarctation of aorta Decreased fetal movement Glaucoma Bulbous nose Small for gestational age Rocker bottom foot Narrow chest Intellectual disability, moderate Proptosis Skeletal muscle atrophy Webbed neck Ichthyosis Postaxial polydactyly Median cleft palate Rhizomelia Median cleft lip Hypoplastic nipples Abnormality of the face Heterotopia Wide intermamillary distance Midface retrusion Optic atrophy Absent septum pellucidum Syndactyly Preaxial foot polydactyly Anophthalmia Preaxial polydactyly Patent foramen ovale Holoprosencephaly Respiratory distress Behavioral abnormality Atrial septal defect Oral cleft Short nose Absent speech Micropenis Retrognathia Nevus Brachydactyly Hypothyroidism Small placenta Short umbilical cord Craniosynostosis Lymphedema Sloping forehead Hydranencephaly Growth hormone deficiency Anteverted nares Anencephaly Sensorineural hearing impairment Abnormality of the skin Broad foot Hypogonadism Muscular dystrophy Low-set, posteriorly rotated ears Disproportionate short-limb short stature Radial deviation of finger Facial cleft Aplasia/Hypoplasia of the corpus callosum Narrow mouth Brachycephaly Bifid tongue Hypospadias Joint contracture of the hand Hernia Hypoplasia of the corpus callosum Pericardial effusion Motor delay Cystic hygroma Microcornea Overlapping fingers Abnormal cardiac septum morphology Wide mouth Short ribs Short thorax Omphalocele Depressed nasal ridge Micromelia Short palm Short foot Renal cyst Postaxial hand polydactyly Renal agenesis Renal hypoplasia Lissencephaly Abnormal intestine morphology Bilateral sensorineural hearing impairment Tapered finger Mild microcephaly Dental malocclusion Retinal dysplasia Congenital nystagmus Abnormality of the periventricular white matter Narrow forehead Abnormality of the sternum Tented upper lip vermilion Exotropia Widely spaced teeth Large hands Spina bifida Unilateral renal agenesis Abnormality of the hair Proximal placement of thumb Ectropion Progressive microcephaly Rickets Sparse eyebrow Pachygyria Hypoalbuminemia Generalized edema Downturned corners of mouth Bilateral cryptorchidism Bifid uterus Abnormal eyelid morphology Ataxia Yellow subcutaneous tissue covered by thin, scaly skin Type III lissencephaly Abnormality of limbs Ablepharon Aplasia/Hypoplasia involving the skeletal musculature Choroid plexus cyst Macrogyria Recurrent infections Abnormality of the cerebellar vermis Abnormal nasolacrimal system morphology Abnormality of the philtrum Trismus Calcaneovalgus deformity Abnormal cortical gyration Abnormality of nervous system morphology Lack of skin elasticity Immunodeficiency Absent eyelashes Abnormality of neuronal migration Submucous cleft hard palate Opisthotonus Highly arched eyebrow Retinal detachment Prominent occiput External genital hypoplasia Transposition of the great arteries Osteomalacia Smooth philtrum Abnormal eyelash morphology Thrombocytopenia Pulmonic stenosis Synophrys Short philtrum Thin upper lip vermilion Reduced visual acuity Severe intrauterine growth retardation Abnormality of the mouth Cerebral cortical atrophy Prominent forehead Cerebellar atrophy Dolichocephaly Protein-losing enteropathy Encephalocele Occipital encephalocele Partial agenesis of the corpus callosum Multiple lipomas Adrenal insufficiency Diabetes insipidus Easy fatigability Preauricular skin tag Long eyelashes Abnormality of the genital system Fine hair Meningocele Oligohydramnios Tetralogy of Fallot Decreased testicular size Underdeveloped nasal alae Broad nasal tip Hypoplasia of the maxilla Postural instability Hypotrichosis Coloboma Lipoma Coronal craniosynostosis Dilatation Absent tibia Midline facial cleft Pectoral muscle hypoplasia/aplasia Frontal cutaneous lipoma Lipoma of corpus callosum Cranium bifidum occultum Morning glory anomaly Scleral staphyloma Widely-spaced maxillary central incisors Hypoplastic frontal sinuses Parietal foramina Short columella Broad columella Bifid nose Agenesis of cerebellar vermis Broad philtrum Alopecia totalis Bifid nasal tip Conical tooth Widow's peak Calvarial skull defect Conductive hearing impairment Vaginal neoplasm Anomalous pulmonary venous return Deeply set eye Finger clinodactyly Multicystic kidney dysplasia Cafe-au-lait spot Triangular face Long face Abnormality of skin pigmentation Corneal opacity Abnormality of the eye Apnea Delayed skeletal maturation Microretrognathia Cognitive impairment Muscular hypotonia Neoplasm Eversion of lateral third of lower eyelids Flared nostrils Intestinal lymphangiectasia Macrothrombocytopenia Increased mean platelet volume Total anomalous pulmonary venous return Osteolysis Aortic regurgitation Premature chromatid separation Abnormality of the skull Epidermoid cyst Increased nuchal translucency Abnormal aortic morphology Stomach cancer Rhabdomyosarcoma Subvalvular aortic stenosis Intestinal polyposis Abnormality of the upper limb Duodenal atresia Acute lymphoblastic leukemia Sleep apnea Abnormal lung lobation Abnormality of immune system physiology Multiple cafe-au-lait spots Atrioventricular canal defect Colon cancer Aplasia/Hypoplasia of the cerebellum Nephroblastoma Myelodysplasia Abnormality of vision Thick lower lip vermilion Coarse hair Cerebral calcification Localized neuroblastoma High, narrow palate Camptodactyly of finger Hypermetropia Abnormality of eye movement Abnormality of the foot Peripheral neuropathy Hypotelorism Apraxia Increased number of skin folds Congenital contracture Abnormality of the scrotum Upper limb asymmetry Broad eyebrow Periorbital fullness Lower limb asymmetry External ear malformation Irregular hyperpigmentation Neuroblastoma Premature birth Akinesia Cerebellar vermis atrophy Depressed nasal tip Absent palmar crease Elbow ankylosis Ulnar deviation of the hand or of fingers of the hand Thyroid hypoplasia Fractures of the long bones Cavum septum pellucidum Ulnar deviation of the hand Excessive daytime somnolence Fetal akinesia sequence Multiple joint contractures Adrenal hypoplasia Abnormality of abdomen morphology Fatigable weakness Thin ribs Slender long bone Hypokinesia Generalized amyotrophy Thoracic hypoplasia Hamartoma Abnormality of the musculature Hepatomegaly Lethal skeletal dysplasia Delayed speech and language development Cerebellar dysplasia Hand clenching Urethrovaginal fistula Abnormal pelvis bone ossification Absent or minimally ossified vertebral bodies Bifid epiglottis Uterus didelphys Congenital hepatic fibrosis Hypoplasia of the brainstem Ectopic anus Esophageal atresia Preaxial hand polydactyly Hydrops fetalis Abnormality of the metaphysis Kinked brainstem Hypoplasia of penis Abdominal distention Congestive heart failure Pleural effusion Long fingers Febrile seizures Tricuspid regurgitation Overfolded helix Optic nerve hypoplasia Cutis laxa Generalized hirsutism Thickened skin Hypoplasia of dental enamel Hypertrichosis Full cheeks Pectus excavatum Oculomotor apraxia Severe global developmental delay Microtia Retinopathy Plagiocephaly Cutaneous syndactyly Umbilical hernia Adducted thumb Intestinal hypoplasia Splenomegaly Ectodermal dysplasia Aplasia/Hypoplasia of the skin Abnormality of hair texture Dry hair Concave nasal ridge Tracheal stenosis Patellar dislocation Foot polydactyly Epiphyseal stippling Congenital ichthyosiform erythroderma Bilateral talipes equinovarus Scarring alopecia of scalp Erythroderma Abnormality of the thorax Scaling skin Anal atresia Sparse eyelashes Abnormality of the fingernails Joint dislocation Hemivertebrae Butterfly vertebrae Hemiatrophy Abnormal vertebral morphology Macrotia Bifid uvula Muscle cramps Everted lower lip vermilion Thick vermilion border Polymicrogyria Toe syndactyly Finger syndactyly Osteopenia Osteoporosis Patchy alopecia Stippled calcification in carpal bones Tarsal stippling Elevated 8(9)-cholestenol Elevated 8-dehydrocholesterol Punctate vertebral calcifications Tracheal calcification Hyperkeratosis with erythema Vertebral wedging Sparse and thin eyebrow Abnormality of epiphysis morphology Single transverse palmar crease Natal tooth Pancreatic cysts Cystic renal dysplasia Atelectasis Thoracic dysplasia Hypoplastic scapulae Single umbilical artery Microglossia Protuberant abdomen Broad palm Horizontal ribs Short finger Milia Bowing of the legs Metaphyseal irregularity Short long bone Bilateral single transverse palmar creases Short toe Intestinal malrotation Median cleft lip and palate Accessory spleen Hip dysplasia Depressivity Esotropia Sparse hair Erythema Postnatal growth retardation Abnormality of the nervous system Skeletal dysplasia Kyphoscoliosis Hyperkeratosis Malar flattening Lobulated tongue Abnormality of the dentition Failure to thrive Absent internal genitalia Intrahepatic bile duct cysts Bowing of the arm Pancreatic dysplasia Fetal ascites Periportal fibrosis Hamartoma of tongue Anterior basal encephalocele



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