Cleft palate, and Cyanosis

Diseases related with Cleft palate and Cyanosis

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


Top matches:

Medium match NEURALGIC AMYOTROPHY


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

Medium match CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA


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

Low match CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

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Other less relevant matches:

Low match NAXOS DISEASE


Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

NAXOS DISEASE Is also known as keratosis palmoplantaris with arrhythmogenic cardiomyopathy|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|kwwh type i|keratoderma with woolly hair type i|mal de naxos|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyo

Related symptoms:

  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Arrhythmia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NAXOS DISEASE

Low match CHILD SYNDROME


CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.

CHILD SYNDROME Is also known as child syndrome|child nevus|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|congenital hemidysplasia with ichthyosiform nevus and limbs defects

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHILD SYNDROME

Low match POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Ptosis
  • High palate
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Low match DIAMOND-BLACKFAN ANEMIA 10; DBA10


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Low match TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1


Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Genetic Heterogeneity of Hereditary Hemorrhagic TelangiectasiaSee also HHT2 (OMIM ), caused by mutation in the ALK1 gene (ACVRL1 ) on chromosome 12q13; HHT3 (OMIM ), mapped to chromosome 5q31; HHT4 (OMIM ), mapped to chromosome 7p14; and HHT5 (OMIM ), caused by mutation in the GDF2 gene (OMIM ) on chromosome 10q11.See also juvenile polyposis/HHT syndrome (OMIM ), caused by mutation in the SMAD4 gene (OMIM ).

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 Is also known as telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber|orw disease|hht|osler-rendu-weber disease

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

Top 5 symptoms//phenotypes associated to Cleft palate and Cyanosis

Symptoms // Phenotype % cases
Dyspnea Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Cyanosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Feeding difficulties Muscle weakness Clinodactyly Low-set ears Flexion contracture Intellectual disability Anemia Facial palsy Micrognathia Respiratory distress Skeletal muscle atrophy Respiratory failure

Rare Symptoms - Less than 30% cases


Clubbing Cerebral hemorrhage Delayed speech and language development Global developmental delay Telangiectasia Ischemic stroke Epistaxis Gastrointestinal hemorrhage Migraine Cirrhosis Hypertension Type 1 muscle fiber predominance Shoulder girdle muscle weakness Congestive heart failure Dilatation Alopecia Hyperkeratosis Erythema Polycythemia Hematochezia Subarachnoid hemorrhage Gastrointestinal telangiectasia Cerebral arteriovenous malformation Sudden cardiac death Right-to-left shunt Brain abscess Spinal arteriovenous malformation Pulmonary arteriovenous malformation Hepatic arteriovenous malformation Nasal mucosa telangiectasia Tongue telangiectasia Palate telangiectasia Nail bed telangiectasia Apnea Gastrointestinal arteriovenous malformation Fever Fingerpad telangiectases Spontaneous, recurrent epistaxis Hyperhidrosis Hematemesis Malar flattening Melena Long philtrum Conjunctival telangiectasia Hypertonia Lip telangiectasia Hypoplasia of the corpus callosum Transient ischemic attack Cleft upper lip Akinesia Tented upper lip vermilion Talipes equinovarus Feeding difficulties in infancy Exertional dyspnea Kyphoscoliosis Polyhydramnios Kyphosis Short neck Ptosis Pulmonary hypoplasia Cryptorchidism Growth delay Generalized hypotonia Round face Hearing impairment Narrow mouth Pain Dolichocephaly Gastrointestinal angiodysplasia Ankle weakness Renal hypoplasia/aplasia Thoracic kyphoscoliosis Adrenal hypoplasia Parakeratosis EMG: myopathic abnormalities Delayed gross motor development Epiphyseal stippling Short clavicles Congenital ichthyosiform erythroderma Easy fatigability Reduced vital capacity Erythroderma Congenital hip dislocation Meningocele Short ribs Neck flexor weakness Abnormality of the nail Coarctation of aorta Renal agenesis Nevus Ichthyosis Ophthalmoparesis Upper limb muscle weakness Hypotrichosis Restrictive ventilatory defect EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Myelomeningocele Decreased miniature endplate potentials Abnormality of eye movement Decreased size of nerve terminals Triceps weakness Fatigable weakness of respiratory muscles Hip flexor weakness Fatigable weakness of neck muscles Abnormality of masticatory muscle Abnormality of the musculature of the upper limbs Elevated 8-dehydrocholesterol Elevated 8(9)-cholestenol Parachute mitral valve Aplasia/Hypoplasia involving the central nervous system Pulmonary arterial hypertension Reduced tendon reflexes Mild intrauterine growth retardation Aplasia/hypoplasia of the extremities Weakness of long finger extensor muscles Drowsiness Thyroid hypoplasia Weakness of the intrinsic hand muscles Orthopnea Diplopia Vertebral hypoplasia Subvalvular aortic stenosis Hypoplastic pelvis Hypoplastic scapulae Single ventricle Cerebellar atrophy Choriocapillaris atrophy Encephalopathy Atherosclerosis Ascites Hematuria Nausea Stroke Abnormality of the liver Visual loss Headache Portal hypertension Mandibulofacial dysostosis Reticulocytopenia Cleft soft palate Increased mean corpuscular volume Broad neck Macrocytic anemia Ectopic kidney Atresia of the external auditory canal Elevated alkaline phosphatase Pericardial effusion Congenital diaphragmatic hernia Polycystic liver disease Dilatation of mesenteric artery Venous varicosities of celiac and mesenteric vessels Visual auras High-output congestive heart failure Arteriovenous fistulas of celiac and mesenteric vessels Coronary artery aneurysm Hemangiomatosis Pulmonary hemorrhage Focal sensory seizure Scleroderma Arteriovenous fistula Venous malformation Migraine with aura Hypoxemia Esophageal varix Abnormality of the vasculature Thrombocytosis Hemoptysis Choanal atresia Microtia Microcephaly Brachycephaly Flat face Thin vermilion border Dysmetria Pallor Muscular hypotonia of the trunk Rigidity Gait ataxia Cerebellar hypoplasia Broad-based gait Clinodactyly of the 5th finger Absent speech Hydronephrosis Tremor Hyperreflexia Epicanthus Visual impairment Nystagmus Abnormal cerebellum morphology Clonus Conductive hearing impairment Truncal titubation Jaundice Posteriorly rotated ears Patent ductus arteriosus Hernia Midface retrusion Ventricular septal defect Intrauterine growth retardation Failure to thrive Titubation Horizontal nystagmus Broad face Delayed ability to walk Ankle clonus Agitation Oral-pharyngeal dysphagia Focal impaired awareness seizure Optic nerve hypoplasia Finger clinodactyly Abnormal cardiac septum morphology Ventricular arrhythmia Umbilical hernia Fetal akinesia sequence Generalized limb muscle atrophy Muscle fiber necrosis Increased nuchal translucency 3-Methylglutaconic aciduria Axial muscle weakness Increased connective tissue Exercise-induced myalgia Nemaline bodies Facial diplegia Minicore myopathy Bell-shaped thorax Severe postnatal growth retardation Distal arthrogryposis Difficulty running Centrally nucleated skeletal muscle fibers Cystic hygroma Myopathic facies Increased variability in muscle fiber diameter Functional respiratory abnormality Type 1 muscle fiber atrophy Mask-like facies Depressed nasal bridge Retrognathia Mandibular prognathia Hyporeflexia Renal insufficiency Short nose Intellectual disability, severe Anteverted nares Wide nasal bridge Cognitive impairment Internally nucleated skeletal muscle fibers Spasticity 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 Bilateral cryptorchidism Congenital muscular dystrophy Camptodactyly Sprengel anomaly Myopathy Edema Downslanted palpebral fissures Motor delay Muscular hypotonia Abnormal facial shape Hypertelorism Acrocyanosis Scapular winging Pneumonia EMG abnormality Polyneuropathy Sleep disturbance Paresthesia Neurological speech impairment Paralysis Arthralgia Peripheral neuropathy Areflexia Recurrent respiratory infections Pterygium Generalized muscle weakness Scrotal hypoplasia External ophthalmoplegia Narrow face Bradycardia Hydrops fetalis Decreased fetal movement Aciduria Webbed neck Single transverse palmar crease Micropenis Ophthalmoplegia Arthrogryposis multiplex congenita Muscular dystrophy Prominent nasal bridge Respiratory tract infection Joint laxity Proximal muscle weakness Neonatal hypotonia Pes planus Irritability Abnormality of cardiovascular system morphology Epidermal acanthosis Brittle hair Ventricular tachycardia Acanthosis nigricans Cardiac arrest Sparse and thin eyebrow Long eyelashes Sparse scalp hair Palpitations Cardiomegaly Fragile skin Abnormal blistering of the skin Ectodermal dysplasia Syncope Sepsis Palmoplantar keratoderma Tachycardia Vertigo Nail dystrophy Right bundle branch block Curly hair Abnormal heart morphology Acantholysis Intellectual disability, mild Abnormal morphology of right ventricular trabeculae Ventricular flutter Abnormal right ventricle morphology Paroxysmal ventricular tachycardia Right ventricular dilatation Prolonged QRS complex Abnormal T-wave Abnormality of hair texture Alopecia of scalp Right ventricular cardiomyopathy T-wave inversion Hypergranulosis Onycholysis Reduced ejection fraction Clubbing of fingers Woolly hair Ventricular extrasystoles Dilated cardiomyopathy Arrhythmia Blepharophimosis Underdeveloped nasal alae Nasal speech Adducted thumb Elbow flexion contracture Hypohidrosis Recurrent urinary tract infections Interphalangeal joint contracture of finger Generalized-onset seizure Dehydration Limitation of joint mobility Keratitis Full cheeks Tapered finger Highly arched eyebrow Wide nose Short palm Falls Carious teeth Attention deficit hyperactivity disorder Radial deviation of finger Overlapping toe Cardiomyopathy Temperature instability Fatigue Cold-induced sweating Facial tics Smooth tongue Hypernatremic dehydration Bilateral camptodactyly Unexplained fevers Hypopnea Velopharyngeal insufficiency Disproportionate tall stature Large face Central apnea Trismus Narrow nose Malignant hyperthermia Episodic fever Acute kidney injury Limited elbow extension Opisthotonus Dilatation of celiac artery



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