Edema, and Dolichocephaly

Diseases related with Edema and Dolichocephaly

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

Top matches:

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

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 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Other less relevant matches:

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Low match MONOSOMY 22Q13

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Dolichocephaly

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism High palate Cleft palate Myopathy Muscular hypotonia Low-set ears Cryptorchidism Short stature Lymphedema Acidosis Abnormal facial shape Ptosis Kyphoscoliosis Micrognathia Nystagmus Strabismus Feeding difficulties High forehead Respiratory insufficiency Upslanted palpebral fissure Downslanted palpebral fissures Neonatal hypotonia Myopathic facies Renal insufficiency Cystic hygroma Scoliosis Muscle weakness Pectus excavatum Hydrops fetalis Hepatomegaly Macrocephaly Polyhydramnios Short ribs Midface retrusion Short neck Brachydactyly Malar flattening Narrow chest

Rare Symptoms - Less than 30% cases

Metabolic acidosis Palpebral edema Fused teeth Mesomelia Polycystic kidney dysplasia Renal cyst Limb undergrowth Large fontanelles Pulmonary hypoplasia Aciduria Sparse hair Nevus Polydactyly Syndactyly Frontal bossing Micromelia Flexion contracture Full cheeks Muscular dystrophy Single transverse palmar crease Decreased fetal movement Webbed neck Wide nasal bridge Obesity Lactic acidosis Arthrogryposis multiplex congenita Areflexia Splenomegaly Macrotia Talipes equinovarus Proximal muscle weakness Skeletal muscle atrophy Elevated serum creatine phosphokinase Kyphosis Fever Anteverted nares Microdontia Clinodactyly Hypoglycemia Failure to thrive Microcephaly Cataract Flat acetabular roof Hypoplastic scapulae Hypoplastic toenails Delayed skeletal maturation Accelerated skeletal maturation Telecanthus Apnea Short nose Joint laxity Abnormal heart morphology Deep philtrum Elevated hepatic transaminase Low-set, posteriorly rotated ears Respiratory distress Ataxia Pneumonia Triangular face Pain Anemia Lymphadenopathy Metopic synostosis Optic atrophy Progressive cerebellar ataxia Cerebellar atrophy Motor delay Recurrent respiratory infections Horizontal ribs Respiratory failure Ophthalmoplegia External ophthalmoplegia Narrow face Bradycardia Cyanosis Generalized muscle weakness Cloverleaf skull Prominent nasal bridge Vomiting Respiratory tract infection Feeding difficulties in infancy Bile duct proliferation Facial palsy Portal fibrosis Micropenis Growth delay Fluctuating splenomegaly Normocytic hypoplastic anemia Petechiae Cerebral cortical atrophy Organic aciduria Nuclear cataract Arthralgia Severe failure to thrive Skin rash Hepatosplenomegaly Agenesis of cerebellar vermis Leukocytosis Tented upper lip vermilion Abnormality of the liver Clumsiness Blue sclerae Underdeveloped nasal alae Cholestatic liver disease Extramedullary hematopoiesis Abnormality of the nervous system Retinal dystrophy Fluctuating hepatomegaly Diarrhea Morbilliform rash Malabsorption Chronic leukemia Cerebral atrophy Thrombocytopenia Normocytic anemia Leukemia Posteriorly rotated ears Therapeutic abortion Glutathione synthetase deficiency Abdominal pain Hypoplastic anemia Scrotal hypoplasia Dumbbell-shaped long bone Pterygium Neurological speech impairment Delayed gross motor development Narrow palate Telangiectasia Tall stature Subcutaneous nodule Broad thumb Lymphoma Wide nose Joint hyperflexibility Long philtrum Intracranial hemorrhage Neoplasm Stippled chondral calcification Intrahepatic biliary dysgenesis Elevated long chain fatty acids Brushfield spots Optic nerve dysplasia Abnormality of the mitochondrion Hypoplasia of the thymus Abnormality of the helix Cachexia Aortic aneurysm Metatarsus adductus Angina pectoris Abnormal large intestine morphology Uterine neoplasm Abdominal wall muscle weakness Subcutaneous hemorrhage Hamartomatous polyposis Neoplasm of the breast Visceral angiomatosis Intestinal polyposis Thyroid carcinoma Abnormality of the optic nerve Cutis marmorata Arteriovenous malformation Meningioma Capillary hemangioma Lipoma Hashimoto thyroiditis Irregular hyperpigmentation Hamartoma Multiple cafe-au-lait spots Multiple lipomas Turricephaly Clitoral hypertrophy Akinesia Fetal akinesia sequence Increased nuchal translucency 3-Methylglutaconic aciduria Axial muscle weakness Increased connective tissue Exercise-induced myalgia Cholangitis Type 1 muscle fiber predominance Shoulder girdle muscle weakness Nemaline bodies Facial diplegia Generalized limb muscle atrophy Bell-shaped thorax Severe postnatal growth retardation Distal arthrogryposis Difficulty running Centrally nucleated skeletal muscle fibers Increased variability in muscle fiber diameter Bilateral cryptorchidism Mask-like facies Congenital muscular dystrophy Muscle fiber necrosis Functional respiratory abnormality Cubitus valgus Abnormality of cardiovascular system morphology Poor suck Intellectual disability, progressive Opacification of the corneal stroma Aminoaciduria Joint contracture of the hand Pigmentary retinopathy Developmental regression Camptodactyly Jaundice Intellectual disability, severe Minicore myopathy Intrauterine growth retardation Type 1 and type 2 muscle fiber minicore regions Abnormal muscle morphology Sternocleidomastoid amyotrophy Frog-leg posture Tibialis atrophy Rectus femoris muscle atrophy Muscle fiber hypertrophy Internally nucleated skeletal muscle fibers Type 1 muscle fiber atrophy Broad philtrum Blepharophimosis Biliary cirrhosis Thoracic hypoplasia Platyspondyly Abnormality of the metaphysis Short uvula Short lingual frenulum Bilateral postaxial polydactyly Thoracic dysplasia Abnormal form of the vertebral bodies Agenesis of permanent teeth Aplasia/Hypoplasia of the eyebrow Hypertonia Short long bone Bowing of the long bones Fine hair Renal hypoplasia Nail dysplasia Ascites Postaxial polydactyly Short distal phalanx of finger Skeletal dysplasia Dilatation Oral cleft Tachycardia Ventricular arrhythmia Tachypnea Shock Lumbar hyperlordosis Hypotension Abnormal bleeding Muscle cramps Joint hypermobility Limb muscle weakness Severe short stature Pectus carinatum Stroke Hyperlordosis Myalgia Rigidity Hyperhidrosis Pes cavus Arrhythmia Hepatic failure Cleft lip Ventricular fibrillation Diaphyseal thickening Encephalopathy Absent speech Hypoplasia of the corpus callosum Ventriculomegaly Fibular hypoplasia Visual impairment Ovoid vertebral bodies Hypoplastic ilia Lateral clavicle hook Prominent forehead Vertebral hypoplasia Hypoplastic vertebral bodies Anterior rib cupping Advanced ossification of carpal bones Severe hydrops fetalis Snail-like ilia Increased fibular diameter Advanced tarsal ossification Myoclonus Metaphyseal irregularity Hypospadias Cerebral visual impairment Spontaneous abortion Facial hypotonia Neurodevelopmental delay Abnormality of the fingernails Overlapping toe Bilateral ptosis Precocious puberty CNS hypomyelination Cafe-au-lait spot Disproportionate short-limb short stature Broad-based gait Open mouth Epileptic encephalopathy Esotropia Delayed myelination Unsteady gait Facial asymmetry Broad forehead Anxiety Myotonia Abnormality of the coagulation cascade High anterior hairline Patent ductus arteriosus Smooth philtrum Unossified vertebral bodies Craniosynostosis Abnormality of the pinna Proteinuria Retrognathia Rod-cone dystrophy Inguinal hernia Hernia Everted lower lip vermilion Abnormality of the dentition Abnormality of the skeletal system Hypertension Depressed nasal bridge Recurrent pyelonephritis Hair-pulling Cerebellar cortical atrophy Bruxism Stage 5 chronic kidney disease Ectodermal dysplasia Impaired pain sensation Cutis laxa Polysplenia Cutaneous finger syndactyly Nephronophthisis Sparse eyebrow Preaxial polydactyly Patent foramen ovale Chronic kidney disease Widely spaced teeth Plagiocephaly Postaxial hand polydactyly Sparse eyelashes Narrow palpebral fissure Hyperbilirubinemia Hepatic fibrosis Rhizomelia Left ventricular hypertrophy Cholestasis Narrow forehead Arachnoid cyst Large hands Hyperkalemia Breech presentation Hearing impairment Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Congenital ptosis Diaphragmatic eventration Respiratory arrest Severe lactic acidosis Hyperphosphatemia Immunodeficiency Low hanging columella Thoracic kyphosis Malignant hyperthermia Myoglobinuria Scaphocephaly Acute kidney injury Rhabdomyolysis Abnormality of the sternum Delayed speech and language development Clinodactyly of the 5th finger Recurrent skin infections Sleep disturbance Sacral dimple Pointed chin Hypohidrosis Dental crowding Long eyelashes Renal dysplasia Dental malocclusion Vesicoureteral reflux Thick eyebrow Agenesis of corpus callosum Bulbous nose Nausea and vomiting Hypermetropia Autistic behavior Hydronephrosis Deeply set eye Umbilical hernia Gastroesophageal reflux Hyperactivity Neoplasm of the adrenal cortex


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