Abnormal facial shape, and Cyanosis

Diseases related with Abnormal facial shape and Cyanosis

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Cyanosis that can help you solving undiagnosed cases.

Top matches:

Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.

NEURALGIC AMYOTROPHY Is also known as mononeuritis multiplex with brachial predilection|acute brachial plexus neuritis|immune brachial plexus neuropathy|brachial plexus neuritis|neuralgic shoulder amyotrophy

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about NEURALGIC AMYOTROPHY

Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. 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 K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Micrognathia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A

Other less relevant matches:

FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

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

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Cyanosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Abnormal facial shape and Cyanosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Respiratory tract infection Heart murmur Ptosis Recurrent respiratory infections Low-set ears High palate Respiratory distress Kyphoscoliosis Intellectual disability Global developmental delay

Rare Symptoms - Less than 30% cases

Renal insufficiency Pneumonia Short stature Fever Muscular hypotonia Bradycardia Macroglossia Ascites Myopathy Failure to thrive Posterior embryotoxon Central hypotonia Microcephaly Nystagmus Prominent forehead Mandibular prognathia Joint laxity Proximal muscle weakness Generalized muscle weakness Polyhydramnios Areflexia Decreased fetal movement Motor delay Muscle weakness Abnormality of the skeletal system Proteinuria Short neck Edema Kyphosis Tented upper lip vermilion Clinodactyly Distal arthrogryposis Aciduria Ophthalmoplegia Cholestasis Arthrogryposis multiplex congenita Triangular face Narrow mouth Round face Hyporeflexia Micrognathia Absent speech Jaundice High forehead Muscular hypotonia of the trunk Downslanted palpebral fissures Cleft palate Dolichocephaly Skeletal muscle atrophy Respiratory insufficiency EMG: impaired neuromuscular transmission Episodic respiratory distress Intermittent episodes of respiratory insufficiency due to muscle weakness Talipes equinovarus Flexion contracture Frontalis muscle weakness Cryptorchidism Anisopoikilocytosis Growth delay Scoliosis Heparan sulfate excretion in urine Short digit Acetylcholine receptor antibody positivity Urinary glycosaminoglycan excretion Feeding difficulties in infancy Respiratory failure Single transverse palmar crease Pterygium Scrotal hypoplasia External ophthalmoplegia Narrow face Hydrops fetalis Webbed neck Pulmonary hypoplasia Micropenis Muscular dystrophy Morphological abnormality of the central nervous system Prominent nasal bridge Choking episodes Facial palsy Neonatal hypotonia Narrow jaw EEG with polyspike wave complexes Apneic episodes precipitated by illness, fatigue, stress Diplopia Poor suck Dysphonia Easy fatigability Poor head control EMG: myopathic abnormalities Microretrognathia Congenital hip dislocation Dermatan sulfate excretion in urine Stridor Intervertebral space narrowing Focal seizures, afebril Waddling gait Esotropia Dysplastic aortic valve Localized skin lesion Distal amyotrophy Nasal speech Toe walking Nasal regurgitation Motor polyneuropathy Sudden episodic apnea Staring gaze Congenital muscular dystrophy Central sleep apnea Spinal deformities Respiratory arrest Muscle fiber atrophy Distal lower limb muscle weakness Bulbar palsy Limb-girdle muscle weakness Obstructive sleep apnea Neck muscle weakness Abnormality of mucopolysaccharide metabolism Fatigable weakness Weak cry Spinal rigidity Akinesia Obstructive lung disease Mask-like facies Hyperactivity Hepatosplenomegaly Abnormality of the skull Umbilical hernia Coarse facial features Dyspnea Proptosis Inguinal hernia Aggressive behavior Behavioral abnormality Edema of the lower limbs Beaking of vertebral bodies Communicating hydrocephalus Increased mean corpuscular volume Thoracolumbar kyphosis Inspiratory stridor Insomnia Developmental regression Hyperplasia of the maxilla Recurrent otitis media Increased intracranial pressure Tachypnea Progressive hearing impairment Thickened skin Abnormality of the face Pericardial effusion Mitral regurgitation Pulmonary arterial hypertension Protuberant abdomen Mitral valve prolapse Protruding tongue Abnormality of the cardiovascular system Limitation of joint mobility Tachycardia Joint stiffness Postnatal growth retardation Hypochromic anemia Anteverted nares Bilateral cryptorchidism Facial diplegia Increased connective tissue Exercise-induced myalgia Type 1 muscle fiber predominance Shoulder girdle muscle weakness J-shaped sella turcica Nemaline bodies Fetal akinesia sequence Bell-shaped thorax 3-Methylglutaconic aciduria Severe postnatal growth retardation Difficulty running Centrally nucleated skeletal muscle fibers Cystic hygroma Recurrent upper respiratory tract infections Myopathic facies Increased variability in muscle fiber diameter Axial muscle weakness Increased nuchal translucency Abnormality of the optic disc Sternocleidomastoid amyotrophy Frontal bossing Macrocephaly Optic atrophy Depressed nasal bridge Hearing impairment Type 1 and type 2 muscle fiber minicore regions Abnormal muscle morphology Frog-leg posture Muscle fiber necrosis Tibialis atrophy Rectus femoris muscle atrophy Internally nucleated skeletal muscle fibers Type 1 muscle fiber atrophy Minicore myopathy Functional respiratory abnormality Generalized limb muscle atrophy Muscle fiber hypertrophy Increased body weight Long face Sinus bradycardia Narrow chest Nail dystrophy Erythema Macrotia Shortened PR interval Biventricular hypertrophy Pulmonary edema Myoglobinuria Nephrotic syndrome Enlarged kidney Neonatal hypoglycemia Exercise intolerance Cardiomegaly Hypotension Hypertrophic cardiomyopathy Myalgia Abnormal blistering of the skin Fine hair Congestive heart failure Focal segmental glomerulosclerosis Crossed fused renal ectopia Decreased glomerular filtration rate Onycholysis Tubular atrophy Fragile skin Interstitial pulmonary abnormality Ectopic kidney Neonatal respiratory distress Sparse scalp hair Glomerulosclerosis Hypoalbuminemia Sparse eyelashes Recurrent pneumonia Gynecomastia Sparse and thin eyebrow Abnormal lung morphology Hypoglycemia Cardiomyopathy Junctional split EMG abnormality Focal-onset seizure Highly arched eyebrow EEG abnormality Encephalopathy Acrocyanosis Sprengel anomaly Scapular winging Polyneuropathy Generalized-onset seizure Sleep disturbance Paresthesia Neurological speech impairment Paralysis Arthralgia Peripheral neuropathy Pain Epileptic encephalopathy Absence seizures Abnormality of the nasal bridge Heterotopia Neonatal hyperbilirubinemia Dicarboxylic aciduria Delayed closure of the anterior fontanelle Abnormality of neuronal migration Flat occiput Hyperbilirubinemia Large fontanelles Polymicrogyria Drooling Abnormality of the eye Abnormality of the nervous system Wide nasal bridge Laterally extended eyebrow Thick corpus callosum Cavum septum pellucidum Loss of consciousness Respiratory acidosis Delayed speech and language development Pectus carinatum Cirrhosis Renal hypoplasia Coarctation of aorta Tetralogy of Fallot Pigmentary retinopathy Renal cyst Hematuria Hepatic failure Malabsorption Pointed chin Pulmonic stenosis Pruritus Broad forehead Stroke Retinopathy Abnormal cardiac septum morphology Scarring Renal dysplasia Rickets Acidosis Dark urine Difficulty walking Gastroesophageal reflux Pes cavus Dysphagia Sensorineural hearing impairment Ataxia Axenfeld anomaly Butterfly vertebrae Long nose Peripheral pulmonary artery stenosis Cholestatic liver disease Wolff-Parkinson-White syndrome Pulmonary artery stenosis Poor coordination Exocrine pancreatic insufficiency Renal tubular acidosis Abnormality of the liver Abnormal heart morphology Visual impairment Cerebellar hypoplasia Thin vermilion border Dysmetria Pallor Apnea Rigidity Gait ataxia Brachycephaly Clinodactyly of the 5th finger Abnormal cerebellum morphology Long philtrum Hypertonia Cerebellar atrophy Hypoplasia of the corpus callosum Tremor Hyperreflexia Epicanthus Flat face Broad-based gait Patent ductus arteriosus Broad face Splenomegaly Atrial septal defect Ventricular septal defect Hypertension Cognitive impairment Truncal titubation Titubation Delayed ability to walk Clonus Ankle clonus Agitation Oral-pharyngeal dysphagia Focal impaired awareness seizure Optic nerve hypoplasia Finger clinodactyly Horizontal nystagmus Abnormality of nasopharyngeal adenoids


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