Edema, and Retrognathia

Diseases related with Edema and Retrognathia

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

Top matches:

This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.

HYPOTONIA WITH LACTIC ACIDEMIA AND HYPERAMMONEMIA Is also known as combined oxidative phosphorylation defect type 5|coxpd5

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOTONIA WITH LACTIC ACIDEMIA AND HYPERAMMONEMIA

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

Low match MOGS-CDG

MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).

MOGS-CDG Is also known as glucosidase i deficiency|cdg-iib|cdgiib|cdg iib|carbohydrate deficient glycoprotein syndrome type iib|congenital disorder of glycosylation type 2b|cdg2b|glucosidase 1 deficiency|congenital disorder of glycosylation type iib|cdg syndrome type iib

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MOGS-CDG

Other less relevant matches:

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

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

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

Low match RIN2 SYNDROME

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Retrognathia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Failure to thrive Hypertelorism Micrognathia Respiratory distress Feeding difficulties Hypoplasia of the corpus callosum Growth delay Sparse hair Muscular hypotonia Intellectual disability Polymicrogyria Alopecia Flexion contracture Respiratory failure Ventriculomegaly Long philtrum Optic atrophy Arthrogryposis multiplex congenita

Rare Symptoms - Less than 30% cases

Downslanted palpebral fissures Brachydactyly Midface retrusion Respiratory insufficiency Hand clenching Macrocephaly Overlapping fingers Hypoventilation Recurrent fractures Wide nose Feeding difficulties in infancy Recurrent infections Cerebral atrophy Osteoporosis Delayed cranial suture closure Hypermetropia Wide nasal bridge Cutis laxa Coarse facial features Pulmonary hypoplasia Joint laxity Hydronephrosis Umbilical hernia Hernia Dilatation Depressed nasal bridge Thin vermilion border Hypoplasia of the brainstem Webbed neck Polyhydramnios Lissencephaly Palpebral edema Cognitive impairment Prematurely aged appearance Long nose Hypotelorism Myopathy Large fontanelles Abnormal facial shape Posteriorly rotated ears Dilated cardiomyopathy Kyphoscoliosis Hypertrophic cardiomyopathy Cerebellar hypoplasia Muscular hypotonia of the trunk Acidosis Absent speech Short nose Lactic acidosis Hypertonia Metabolic acidosis Full cheeks Tetraplegia Hyperreflexia Epicanthus Motor delay Spasticity Cardiomyopathy Spastic tetraplegia Leukoencephalopathy Generalized edema Low-set ears Neonatal hypotonia Encephalopathy Brain atrophy Severe muscular hypotonia Sensorineural hearing impairment Sloping forehead Narrow forehead Hearing impairment Pachygyria Trigonocephaly Hydroureter Aphasia Spinal rigidity Dysphasia Long palpebral fissure Prominent metopic ridge Bulbar palsy Mildly elevated creatine phosphokinase Transient ischemic attack Myopathic facies Mask-like facies Myotonia Akinesia Short columella Depressed nasal tip Heterochromia iridis Echolalia Congenital contracture Optic nerve coloboma Abnormality of the upper urinary tract Subcortical cerebral atrophy Mutism EMG: neuropathic changes Thin ribs Telecanthus Fetal distress Percussion myotonia Late-onset distal muscle weakness Ptosis Neck flexor weakness Slender build Short neck Cerebral cortical atrophy Breech presentation Skeletal dysplasia Type 1 muscle fiber predominance Duplication of thumb phalanx Pointed chin Joint stiffness Wide mouth Iris coloboma Highly arched eyebrow Microcornea Prominent nose Nemaline bodies Specific learning disability Fetal akinesia sequence Facial diplegia Low posterior hairline Diaphragmatic paralysis Macrogyria Behavioral abnormality Retinoschisis Hypergonadotropic hypogonadism Joint hypermobility Bruising susceptibility Hirsutism Thick vermilion border Everted lower lip vermilion Single transverse palmar crease Overgrowth High myopia Thick lower lip vermilion Sparse scalp hair Decreased body weight Bronchiectasis Gingival overgrowth Sparse and thin eyebrow Hyperextensible skin Pes planus Redundant skin Increased susceptibility to fractures Aortic aneurysm Premature ovarian insufficiency High pitched voice Prolonged bleeding time Abnormality of the sternum Abnormality of the vasculature Generalized osteoporosis Eclabion Urethral stenosis Irregular dentition Abnormal lip morphology Upper eyelid edema Ichthyosis Hypogonadism Cerebral cortical hemiatrophy Dandy-Walker malformation Osteochondrosis Euryblepharon Strabismus Cataract Talipes equinovarus Anteverted nares Hydrocephalus Infantile muscular hypotonia Clinodactyly Upslanted palpebral fissure Micropenis Camptodactyly Abnormality of eye movement Abnormality of the foot Apraxia Cryptorchidism Heterotopia Oculomotor apraxia Plagiocephaly Cutaneous syndactyly Aplasia/Hypoplasia of the corpus callosum Scrotal hypoplasia Adducted thumb Pleural effusion Overlapping toe Pericardial effusion Cystic hygroma Cerebellar dysplasia Kinked brainstem Short stature EMG: myopathic abnormalities Cough Respiratory insufficiency due to muscle weakness Narrow philtrum Wormian bones Growth abnormality Cachexia Dermal atrophy Pterygium Flat occiput Lipoatrophy Slender long bone Striae distensae Narrow nose Shallow orbits Osteolytic defects of the phalanges of the hand Increased thyroid-stimulating hormone level Thin calvarium Fine hair Nystagmus Cerebellar atrophy Visual impairment Intrauterine growth retardation Developmental regression Irritability Abnormal pyramidal sign Chronic metabolic acidosis Abnormality of the cerebral white matter Wide intermamillary distance Tetraparesis Leukodystrophy Spastic tetraparesis Thin skin Abnormality of the skin Abnormality of the amniotic fluid Open mouth Hepatomegaly Infantile encephalopathy Abnormality of metabolism/homeostasis Constipation Central hypotonia Blepharophimosis Hepatic failure Progressive microcephaly Decreased antibody level in blood Short palpebral fissure Long eyelashes Prominent occiput Thoracic scoliosis Chronic constipation Hypoplasia of the maxilla Status epilepticus Intellectual disability, profound Hypsarrhythmia Microphthalmia Tapered finger Delayed skeletal maturation Hyperkeratosis Proptosis Osteopenia Scarring Prominent nasal bridge Myoclonus Delayed eruption of teeth Abnormality of mitochondrial metabolism Agitation Knee flexion contracture Facial palsy Rectal prolapse Bronchomalacia Muscle weakness Dysphagia Abnormality of the skeletal system Congestive heart failure Pectus excavatum Areflexia Hyporeflexia Recurrent respiratory infections Pes cavus Rigidity Proximal muscle weakness Apnea Bladder diverticulum Hyperlordosis Respiratory tract infection Paralysis Limb muscle weakness Genu valgum Falls Generalized muscle weakness Waddling gait Decreased fetal movement Frequent falls Joint contracture of the hand Narrow face Foot dorsiflexor weakness Periorbital edema Peripheral pulmonary artery stenosis Opisthotonus Gastroesophageal reflux Episodic fever Loss of speech Pendular nystagmus Severe lactic acidosis Primitive reflex Psychomotor deterioration Diffuse leukoencephalopathy Frontoparietal polymicrogyria Progressive leukoencephalopathy Abnormality of the renal tubule Redundant neck skin Malar flattening Inguinal hernia Macrotia Premature skin wrinkling Increased serum lactate Delayed myelination Ascites Convex nasal ridge Congenital diaphragmatic hernia Recurrent urinary tract infections Microretrognathia Sandal gap Laryngomalacia Pyloric stenosis Patent foramen ovale Emphysema Tracheomalacia Pulmonary artery stenosis Infra-orbital fold


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