Fever, and Arachnodactyly

Diseases related with Fever and Arachnodactyly

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

Top matches:

Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Other less relevant matches:

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

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

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Top 5 symptoms//phenotypes associated to Fever and Arachnodactyly

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Tapered finger Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Arachnodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Hearing impairment Short stature Global developmental delay Cleft palate Pain Cryptorchidism Abnormal facial shape Anteverted nares Strabismus Vomiting High palate Feeding difficulties Intellectual disability, severe Scoliosis Growth delay Syndactyly Hyperhidrosis Wide nasal bridge Congestive heart failure Elbow flexion contracture Talipes equinovarus Depressed nasal bridge Narrow mouth Behavioral abnormality Mandibular prognathia Recurrent urinary tract infections Webbed neck Pulmonic stenosis Epicanthus Delayed speech and language development Osteopenia Short nose Vesicoureteral reflux Thrombocytopenia Esotropia Muscular hypotonia Neoplasm Nystagmus Hepatomegaly Low-set ears Prominent forehead Abnormal heart morphology Respiratory distress Anemia Ptosis Short neck Ventricular septal defect Clinodactyly Motor delay Flexion contracture Hypertelorism Muscle weakness Edema Poor suck Intellectual disability, mild Hypertension Lymphadenopathy Macrotia Respiratory tract infection Dilatation Apnea Cardiomegaly Splenomegaly Microcephaly Weight loss Respiratory insufficiency Respiratory failure Polyhydramnios Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases

Febrile seizures Pyloric stenosis Ectopic kidney Otitis media Cleft upper lip Glucose intolerance Dehydration Aspiration Full cheeks Sepsis Psychosis Delayed eruption of teeth Falls Widely spaced teeth Radial deviation of finger Lymphedema Highly arched eyebrow Increased body weight Sleep disturbance Blue sclerae Low posterior hairline Congenital diaphragmatic hernia Microdontia Spontaneous abortion Weak cry Thick eyebrow Camptodactyly Genu valgum Myeloid leukemia Recurrent respiratory infections Small hand Intrauterine growth retardation Leukemia Attention deficit hyperactivity disorder Cognitive impairment Abnormality of the pinna Abnormality of the gastrointestinal tract Myopia Ventriculomegaly Hypospadias Hypoglycemia Abnormality of the dentition Thin upper lip vermilion Kyphosis Autism Hyperactivity Acrocyanosis Dolichocephaly Atrial septal defect Downturned corners of mouth Opisthotonus Short palm Postnatal growth retardation Hyporeflexia Cyanosis Bicuspid aortic valve Hemolytic anemia Limited elbow extension Hypertropia Dyspnea Telecanthus Narrow nasal bridge Abnormally large globe Hypopnea Temperature instability Erysipelas Carious teeth Retrognathia Hypermetropia Round face Pneumonia Hydronephrosis Abnormality of the liver Prominent nasal bridge Ophthalmoplegia Narrow chest Abdominal distention Interphalangeal joint contracture of finger Abnormality of cardiovascular system morphology Aganglionic megacolon Vertigo Hip dislocation Scarring Pallor Disproportionate tall stature Recurrent infections Chronic constipation Constipation Diarrhea Sensorineural hearing impairment Thick lower lip vermilion Arrhythmia Arthralgia Joint stiffness Skin rash Arthrogryposis multiplex congenita Macroglossia Prominent nose Lipodystrophy Myopathy Increased antibody level in blood Elevated erythrocyte sedimentation rate Microcytic anemia Episodic fever Clubbing of fingers Erythema nodosum Camptodactyly of finger Dysphagia Volvulus Neurological speech impairment Nasal speech Osteoporosis Long philtrum Downslanted palpebral fissures Hydrocephalus Myositis Hernia Inguinal hernia Delayed skeletal maturation Brachycephaly Hypoplasia of the corpus callosum Glaucoma Cerebral cortical atrophy Proptosis Kyphoscoliosis Pes planus Abnormal cardiac septum morphology Pectus carinatum Hypertonia Frontal bossing Depressivity Short philtrum Panniculitis Finger syndactyly Hepatosplenomegaly Elevated hepatic transaminase Bilateral camptodactyly Blepharophimosis Hypernatremic dehydration Arthritis Abnormality of the cerebral white matter Hypochromic anemia Smooth tongue Coloboma Facial tics Abnormality of the kidney Erythema Wide nose Babinski sign Abnormal neutrophil count Narrow nose Macronodular cirrhosis Fine hair Facial palsy Coarctation of aorta Episcleritis Sloping forehead Central apnea Tetralogy of Fallot Focal-onset seizure Iris coloboma Feeding difficulties in infancy Large face Velopharyngeal insufficiency Irritability Brain atrophy Unexplained fevers Everted lower lip vermilion Inability to walk Anxiety Finger swelling Overlapping toe Absent speech Conjunctivitis Growth abnormality Adducted thumb Keratitis Long fingers Hypermelanotic macule Basal ganglia calcification Pectus excavatum Malignant hyperthermia Generalized lipodystrophy Spasticity Rimmed vacuoles Acute kidney injury Adipose tissue loss Immune dysregulation Renal insufficiency Hypohidrosis Sudden cardiac death Hyperpigmentation of the skin Limitation of joint mobility Cold-induced sweating Underdeveloped nasal alae Deeply set eye Flexion contracture of toe Hypertriglyceridemia High forehead Trismus Malar flattening Posteriorly rotated ears Bone pain Microphthalmia Agenesis of corpus callosum Generalized-onset seizure Patent ductus arteriosus Lymphopenia Stiff skin Subglottic stenosis Sparse scalp hair Hypoplasia of the radius Abnormality of digit 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Clubbing Proximal placement of thumb Self-injurious behavior Short metatarsal Deep philtrum Incoordination Abnormality of the urinary system Relative macrocephaly Hypoplastic nipples Torticollis Low anterior hairline Long eyelashes Choanal atresia Hypertrichosis Renal hypoplasia High myopia Triangular face Renal cyst Microcornea Single transverse palmar crease High, narrow palate Hirsutism Dislocated radial head Oligodactyly Thin vermilion border Supernumerary ribs Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Absent hand Gastroparesis Phocomelia Ectrodactyly Hand oligodactyly Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Hypoplastic labia majora Esophagitis Aspiration pneumonia Hiatus hernia Poor appetite Pulmonary hypoplasia Astigmatism Open mouth Hallux valgus Broad hallux phalanx Large earlobe Bruxism Tracheal stenosis Misalignment of teeth Low hanging columella Abnormal eyebrow morphology Pulmonary artery stenosis External ear malformation Drowsiness Submucous cleft hard palate Supernumerary nipple Rocker bottom foot Esodeviation Cupped ear Bifid scrotum Aplasia/Hypoplasia of the cerebellum Sparse eyebrow Abnormality of the genitourinary system Drooling Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Absence seizures Pointed chin Postnatal microcephaly Abnormality of the genital system Recurrent otitis media Broad columella Prominent nasal tip Micromelia Cardiomyopathy Toe syndactyly Synophrys Small for gestational age Craniosynostosis Autistic behavior Hypertrophic cardiomyopathy Aggressive behavior Proteinuria Conductive hearing impairment Gastroesophageal reflux Severe short stature Clinodactyly of the 5th finger Headache Abnormality of the skeletal system Broad eyebrow Optic atrophy Macrocephaly Aplasia/Hypoplasia of the cerebral white matter Pulmonary artery sling Large basal ganglia Abnormal morphology of the hippocampus Abnormal eye morphology Generalized muscle hypertrophy Uplifted earlobe Atypical absence seizures Happy demeanor Deep plantar creases Myeloproliferative disorder Granulocytopenia Generalized hypopigmentation Abnormality of the optic nerve Restrictive ventilatory defect Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease Small face Generalized osteoporosis 11 pairs of ribs Overlapping fingers Upper limb undergrowth Aortic root aneurysm Congenital glaucoma Multiple joint dislocation Thoracic hypoplasia Bilateral talipes equinovarus Metatarsus adductus Spondyloepiphyseal dysplasia Radioulnar synostosis Patent foramen ovale Hyperextensible skin Cutis laxa Sandal gap Accelerated skeletal maturation Microretrognathia Talipes equinovalgus Shoulder dislocation Meningitis Abnormality of the nervous system Specific learning disability Hip dysplasia Growth hormone deficiency Gastrointestinal hemorrhage Hypopigmentation of the skin Short foot Polymicrogyria Infertility Delayed puberty Pruritus Stroke Neonatal hypotonia Accessory carpal bones Photophobia Micropenis Diabetes mellitus Hypogonadism Upslanted palpebral fissure Obesity Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Joint dislocation Rhizomelia Abnormality of the cardiovascular system Intestinal malrotation Hyperparathyroidism Hydroureter Anonychia Malnutrition Intestinal obstruction Portal hypertension Hypoalbuminemia External ophthalmoplegia Pancreatitis Horseshoe kidney Overgrowth Broad forehead Achalasia Low-set, posteriorly rotated ears Umbilical hernia Abdominal pain Peripheral neuropathy Abnormality of the Leydig cells Clubbing of toes Lipoatrophy Right bundle branch block Hyperostosis Subcutaneous nodule Abnormality of the face Abnormal pyramidal sign Episodic abdominal pain Peritonitis Amblyopia Midface retrusion Left ventricular hypertrophy Abnormal lung morphology Mitral regurgitation Mitral valve prolapse Short metacarpal Recurrent fractures Flat face Talipes Abnormality of the foot Microtia Joint laxity Megaduodenum Aplasia/Hypoplasia of the abdominal wall musculature Hypoperistalsis Gastrointestinal obstruction Neuroma Barrett esophagus Urethral obstruction Megacystis Prune belly Microcolon Pollakisuria Urinary retention Intestinal pseudo-obstruction Abdominal situs inversus Amenorrhea Narrow forehead Verrucae Glycosuria Hyperacusis Pure red cell aplasia Abnormality of the thymus EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Type 2 muscle fiber atrophy Raynaud phenomenon Hashimoto thyroiditis Primary adrenal insufficiency Fatigable weakness Hyperthyroidism Abnormality of the immune system Bulbar palsy Sudden episodic apnea Ophthalmoparesis Rheumatoid arthritis Systemic lupus erythematosus Easy fatigability Respiratory insufficiency due to muscle weakness Diplopia Hepatitis Generalized muscle weakness Paresthesia Autoimmunity Paralysis Decreased miniature endplate potentials Apneic episodes precipitated by illness, fatigue, stress Rigidity Pancytopenia Hypercoagulability Acute leukemia Acute myeloid leukemia Cellulitis Prolonged bleeding time Leukocytosis Chronic otitis media Myelodysplasia Intracranial hemorrhage Leukopenia Bone marrow hypocellularity Hypotelorism Acetylcholine receptor antibody positivity Migraine Hematuria Bruising susceptibility Cirrhosis Nausea and vomiting Visual loss Immunodeficiency Cerebellar atrophy Fatigue Single fiber EMG abnormality Muscle specific kinase antibody positivity Generalized hypotonia due to defect at the neuromuscular junction Proximal muscle weakness Dysarthria Oligohydramnios Failure to thrive in infancy External genital hypoplasia Truncal obesity Decreased muscle mass Adrenal insufficiency Skeletal muscle hypertrophy Albinism Inflammation of the large intestine Large hands Emotional lability Hyperinsulinemia Precocious puberty Infantile muscular hypotonia Impaired pain sensation Scrotal hypoplasia Sleep apnea Narrow palpebral fissure Hypogonadotrophic hypogonadism Aortic valve stenosis Bradycardia Insulin resistance Clumsiness Primary amenorrhea Cutaneous photosensitivity Type II diabetes mellitus Decreased fetal movement Polyphagia Striae distensae Acromicria Poor fine motor coordination Poor gross motor coordination Almond-shaped palpebral fissure Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Triangular mouth Disseminated intravascular coagulation Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Abdominal obesity Pulmonary embolism Cor pulmonale Hypothermia Ocular albinism Chromosome breakage Hypoplasia of the fovea Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypoventilation Hypopigmentation of hair Dysplastic tricuspid valve


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