Edema, and Cerebellar vermis hypoplasia

Diseases related with Edema and Cerebellar vermis hypoplasia

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

Top matches:

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

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

Other less relevant matches:

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

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

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

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

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

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

Top 5 symptoms//phenotypes associated to Edema and Cerebellar vermis hypoplasia

Symptoms // Phenotype % cases
Dandy-Walker malformation Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Cerebellar vermis hypoplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Posteriorly rotated ears Cerebellar hypoplasia Short neck Depressed nasal bridge Hydrocephalus Pulmonary hypoplasia Polydactyly Talipes equinovarus Flexion contracture Micrognathia Hypertelorism Intellectual disability Narrow chest Generalized hypotonia Short ribs Abnormality of the pinna Scoliosis Epicanthus Polyhydramnios Oral cleft Cleft lip Hydrops fetalis Cataract Anencephaly Cleft upper lip Long philtrum Frontal bossing Cryptorchidism Global developmental delay Ambiguous genitalia Renal cyst Motor delay Thoracic dysplasia Short stature Respiratory distress Ventriculomegaly High palate Abnormal facial shape Seizures Micropenis Flat face Agenesis of corpus callosum Microcephaly

Rare Symptoms - Less than 30% cases

Ventricular septal defect Intestinal malrotation Absent speech Strabismus Skeletal dysplasia Brachycephaly Growth delay Abnormal heart morphology Tricuspid regurgitation Brachydactyly Postaxial hand polydactyly Abnormality of cardiovascular system morphology Hydronephrosis Overlapping fingers Cystic hygroma Overlapping toe Short palm Short foot Scrotal hypoplasia Delayed speech and language development Pachygyria Renal hypoplasia Atelectasis Talipes Intellectual disability, moderate Kyphoscoliosis Limb undergrowth Hypokinesia Hernia Skeletal muscle atrophy Intellectual disability, severe Abnormality of pelvic girdle bone morphology Hamartoma of tongue Ptosis Horizontal ribs Median cleft lip and palate Kyphosis Anteverted nares Microglossia Median cleft lip Downslanted palpebral fissures Preaxial hand polydactyly Microcornea Intrauterine growth retardation Lissencephaly Low-set, posteriorly rotated ears Heterotopia High forehead Microphthalmia Aplasia/Hypoplasia of the corpus callosum Short palpebral fissure Narrow mouth Thoracic hypoplasia Preaxial polydactyly Telecanthus Hearing impairment Postaxial polydactyly Blepharophimosis Polymicrogyria Wide intermamillary distance Micromelia Abnormality of the skeletal system Atrial septal defect Wide nasal bridge Inguinal hernia Bifid tongue Upslanted palpebral fissure Disproportionate short-limb short stature Hypoplastic nipples Hypermetropia Arthrogryposis multiplex congenita Camptodactyly Sparse hair Omphalocele Short thorax Lower limb asymmetry Fetal akinesia sequence Hydranencephaly Pterygium Cavum septum pellucidum Ulnar deviation of the hand Congenital contracture Akinesia Periorbital fullness Excessive daytime somnolence Depressed nasal tip Rocker bottom foot Abnormality of abdomen morphology Multiple joint contractures Adrenal hypoplasia External ear malformation Generalized amyotrophy Coarctation of aorta Absent septum pellucidum Thin ribs Abnormality of the skin Fatigable weakness Nevus Slender long bone High, narrow palate Decreased fetal movement Localized neuroblastoma Abnormality of the musculature Long fingers Overfolded helix Optic nerve hypoplasia Median cleft palate Upper limb asymmetry Abnormality of the scrotum Cutis laxa Increased number of skin folds Generalized hirsutism Hamartoma Thyroid hypoplasia Thickened skin Premature birth Hypoplasia of dental enamel Peripheral neuropathy Abnormality of the face Hypertrichosis Tarsal stippling Neuroblastoma Irregular hyperpigmentation Proptosis Camptodactyly of finger Small for gestational age Febrile seizures Cerebellar vermis atrophy Broad eyebrow Fractures of the long bones Aplasia/Hypoplasia of the skin Ulnar deviation of the hand or of fingers of the hand Esotropia Punctate vertebral calcifications Joint dislocation Hemivertebrae Sparse and thin eyebrow Abnormal vertebral morphology Rhizomelia Abnormality of epiphysis morphology Hip dysplasia Ichthyosis Hyperkeratosis with erythema Erythema Postnatal growth retardation Abnormality of the nervous system Hyperkeratosis Glaucoma Alopecia Clinodactyly of the 5th finger Depressivity Tracheal calcification Vertebral wedging Malar flattening Concave nasal ridge Bilateral talipes equinovarus Congenital ichthyosiform erythroderma Epiphyseal stippling Foot polydactyly Erythroderma Patellar dislocation Tracheal stenosis Abnormality of the thorax Scaling skin Patchy alopecia Coarse hair Sparse eyelashes Abnormality of the fingernails Dry hair Abnormality of hair texture Butterfly vertebrae Scarring alopecia of scalp Hemiatrophy Midface retrusion Elevated 8-dehydrocholesterol Elbow ankylosis Ascites Milia Metaphyseal irregularity Anophthalmia Patent foramen ovale Short long bone Holoprosencephaly Bilateral single transverse palmar creases Short toe Single transverse palmar crease Broad palm Patent ductus arteriosus Syndactyly Splenomegaly Hepatomegaly Intestinal hypoplasia Absent palmar crease Small placenta Short umbilical cord Short finger Natal tooth Abnormality of the dentition Pancreatic dysplasia Optic atrophy Sensorineural hearing impairment Failure to thrive Nystagmus Absent internal genitalia Elevated 8(9)-cholestenol Intrahepatic bile duct cysts Bowing of the arm Fetal ascites Protuberant abdomen Periportal fibrosis Lobulated tongue Accessory spleen Pancreatic cysts Cystic renal dysplasia Preaxial foot polydactyly Hypoplastic scapulae Single umbilical artery Broad foot Bowing of the legs Pontocerebellar atrophy Full cheeks Craniosynostosis Hepatic fibrosis Abnormality of the genital system Retinal dystrophy Astigmatism Platyspondyly Pectus carinatum Severe short stature Mesomelia Kinked brainstem Hand clenching Cerebellar dysplasia Pericardial effusion Hypoplasia of the brainstem Pleural effusion Adducted thumb Polycystic kidney dysplasia Short tibia Plagiocephaly Disproportionate shortening of the tibia Dilatation Cardiomyopathy Dysphagia Gait disturbance Cognitive impairment Muscular hypotonia Muscle weakness Postaxial polysyndactyly of foot Dilation of lateral ventricles Polysyndactyly of hallux Shortening of the tibia Pancreatic fibrosis Hypoplasia of the epiglottis Lateral clavicle hook Spondylometaphyseal dysplasia Abnormality of the larynx Cutaneous syndactyly Oculomotor apraxia Arrhythmia Abnormal cerebellum morphology Palpebral edema Partial agenesis of the corpus callosum Low anterior hairline Long eyelashes Thick lower lip vermilion Narrow forehead Highly arched eyebrow Congenital microcephaly Everted lower lip vermilion Hirsutism Thick eyebrow Poor speech Protruding ear Hypertonia Ataxia Limb hypertonia Nonprogressive cerebellar ataxia Apraxia Behavioral abnormality Hypotelorism Webbed neck Abnormality of the foot Abnormality of eye movement Retrognathia Clinodactyly Short nose Short upper lip Upper eyelid edema Aplastic clavicle Retinal coloboma Upper limb undergrowth Molar tooth sign on MRI Congenital diaphragmatic hernia Coloboma Hyporeflexia Abnormality of metabolism/homeostasis Areflexia Severe global developmental delay Intercostal muscle weakness Abdominal distention Wide nose Anal atresia Highly elevated creatine phosphokinase Absent muscle fiber merosin Abnormal brainstem MRI signal intensity Abnormality of the temporomandibular joint Abnormality of the metaphysis Hypointensity of cerebral white matter on MRI Inferior vermis hypoplasia Increased endomysial connective tissue Impaired mastication Diffuse white matter abnormalities Muscle fiber atrophy Increased connective tissue Hypoplasia of penis Facial cleft Astrocytosis Hypoplasia of the corpus callosum Microtia Retinopathy Umbilical hernia Pectus excavatum Hypospadias Intellectual disability, mild Congestive heart failure Urethrovaginal fistula Esophageal atresia Abnormal pelvis bone ossification Absent or minimally ossified vertebral bodies Bifid epiglottis Uterus didelphys Lethal skeletal dysplasia Congenital hepatic fibrosis Ectopic anus Cerebral edema Reduced ejection fraction Elevated serum creatine phosphokinase Muscular dystrophy Pulmonary arterial hypertension Bradykinesia Focal-onset seizure Macroglossia Inability to walk Ophthalmoplegia Abnormality of the cerebral white matter Hip dislocation Decreased body weight Paralysis Hyperlordosis Feeding difficulties in infancy Facial palsy Neonatal hypotonia Gastroesophageal reflux Respiratory failure Open mouth Progressive muscle weakness Abnormal cortical gyration Myopathic facies Myositis Recurrent lower respiratory tract infections Abnormality of visual evoked potentials Hypoventilation Abnormality of the periventricular white matter Protruding tongue Weak cry Congenital muscular dystrophy Sensorimotor neuropathy Limb-girdle muscular dystrophy Focal impaired awareness seizure Poor suck Respiratory insufficiency due to muscle weakness Absence seizures Congenital hip dislocation Aspiration Stippled calcification in carpal bones


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