Feeding difficulties, and Vertigo

Diseases related with Feeding difficulties and Vertigo

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

Top matches:

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.

46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY Is also known as xy sex reversal-adrenal failure|p450scc deficiency

Related symptoms:

  • Failure to thrive
  • Cryptorchidism
  • Feeding difficulties
  • Talipes equinovarus
  • Vomiting


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY

EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A Is also known as acroosteolysis, neurogenic|neuropathy, hereditary sensory radicular, autosomal recessive|acroosteolysis, giaccai type|neuropathy, progressive sensory, of children|neuropathy, hereditary sensory, type iia|hsan iia|hsn iia|morvan disease|neuropathy, congeni

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A

Other less relevant matches:

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

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

Medium match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart palpitations, sweating, anxiety, lightheadedness, hyperpnea, anxiety, and blurred vision.

POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME DUE TO NET DEFICIENCY Is also known as pots due to net deficiency|orthostatic intolerance due to net deficiency|neurocirculatory asthenia|mitral valve prolapse syndrome|familial orthostatic tachycardia due to norepinephrine transporter deficiency|soldiers heart|irritable heart

Related symptoms:

  • Fatigue
  • Anxiety
  • Irritability
  • Vertigo
  • Nausea


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME DUE TO NET DEFICIENCY

Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.

Related symptoms:

  • Ataxia
  • Vomiting
  • Irritability
  • Pallor
  • Vertigo


SOURCES: ORPHANET MENDELIAN

More info about BENIGN PAROXYSMAL TORTICOLLIS OF INFANCY

Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.

FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT Is also known as familial lev disease|familial lenÈgre disease|familial lev-lenÈgre disease|pfhbib|hereditary bundle branch defect|familial pccd|familial progressive heart block

Related symptoms:

  • Arrhythmia
  • Abnormal heart morphology
  • Abdominal pain
  • Dyspnea
  • Vertigo


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

Top 5 symptoms//phenotypes associated to Feeding difficulties and Vertigo

Symptoms // Phenotype % cases
Vomiting Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Feeding difficulties and Vertigo. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Generalized hypotonia Ataxia Hypertrophic cardiomyopathy Feeding difficulties in infancy Headache Irritability Neurological speech impairment Intellectual disability Atrioventricular block Migraine Muscle weakness Hearing impairment Ptosis Skeletal muscle atrophy Anemia Kyphosis Myopathy Fatigue Arrhythmia Fever Hepatomegaly Dyspnea Abnormal facial shape Global developmental delay Seizures Sudden cardiac death Gastroesophageal reflux Hyperhidrosis Pain Optic atrophy Heart block Osteoporosis Acidosis Delayed puberty Delayed skeletal maturation Hypotension

Rare Symptoms - Less than 30% cases

Motor delay Anxiety Abdominal pain Cognitive impairment Delayed eruption of teeth Paronychia Torticollis Hypertrichosis Macrocephaly Tremor Dysphagia Hirsutism Gastroparesis Clubbing Orthostatic hypotension Hyporeflexia Left anterior fascicular block Ventricular escape rhythm Drowsiness Peripheral neuropathy Diarrhea Areflexia Prolonged QT interval Pallor Bundle branch block Apnea Nausea Paresthesia Sensory neuropathy Polyneuropathy Decreased nerve conduction velocity Dystonia Abnormality of the pinna Carious teeth Poor appetite Short stature Exercise intolerance Hyperkinesis Hemiplegia Opisthotonus Cerebral ischemia Cachexia Microcephaly Easy fatigability Anorexia Hypogonadism Hyperactivity Glaucoma Proptosis Mandibular prognathia Abnormal cerebellum morphology Cryptorchidism Proteinuria Short neck Autism Abnormal heart morphology Encephalopathy Dementia Prominent forehead Hypertonia Abnormality of the dentition Hypertension Stroke Sensorineural hearing impairment Nystagmus Hypoglycemia Developmental regression Hypertelorism Respiratory tract infection Paralysis Coma Growth delay Reduced tendon reflexes Waddling gait Congestive heart failure Respiratory insufficiency Hernia Ichthyosis Wide nasal bridge Syncope Adrenal insufficiency Elevated serum creatine phosphokinase High palate Atrial fibrillation Flexion contracture Lethargy Elbow flexion contracture Hypospadias Hyponatremia Dehydration Bradycardia Muscular dystrophy Proximal muscle weakness Facial palsy Neonatal hypoglycemia Hyperkalemia Primary adrenal insufficiency Rigidity Dilated cardiomyopathy Difficulty walking Talipes equinovarus Hyperlordosis Renal insufficiency Cerebellar atrophy Cerebral cortical atrophy Gait ataxia Weight loss Blindness Constipation Cerebral atrophy Depressivity Visual loss Diabetes mellitus Myoclonus Hypothyroidism Cerebellar hypoplasia Rod-cone dystrophy Photophobia Jaundice Memory impairment Polymicrogyria Nephropathy Postural instability Muscle cramps Generalized myoclonic seizures Sensory impairment Increased serum lactate Hip dysplasia Lactic acidosis Specific learning disability Amenorrhea Cerebral calcification Pigmentary retinopathy Abnormality of the cardiovascular system Generalized-onset seizure Bilateral sensorineural hearing impairment Nephrotic syndrome Agenesis of corpus callosum Peripheral axonal neuropathy Ventriculomegaly Attention deficit hyperactivity disorder EEG abnormality Myalgia Respiratory failure Mental deterioration Protruding ear Erythema Abnormality of the liver Nyctalopia Pruritus Confusion Generalized tonic-clonic seizures Arthrogryposis multiplex congenita Ophthalmoplegia Congenital cataract Nausea and vomiting Malabsorption Anal atresia Dysmetria Respiratory distress Reduced renal corticomedullary differentiation Dysarthria Self-injurious behavior Hypoplasia of the radius Abnormality of the urinary system Incoordination Deep philtrum Short metatarsal Pyloric stenosis Proximal placement of thumb Widely spaced teeth Tricuspid regurgitation Cutis marmorata Short middle phalanx of finger 2-3 toe syndactyly Ectopic kidney Limited elbow extension Abnormality of digit Relative macrocephaly Premature birth Dislocated radial head Renal hypoplasia Webbed neck Otitis media Microdontia Congenital diaphragmatic hernia High myopia Blue sclerae Low posterior hairline Spontaneous abortion Decreased testicular size Choanal atresia Recurrent urinary tract infections Long eyelashes Aspiration Low anterior hairline Increased body weight Weak cry Hypoplastic nipples Hyperreflexia Duplication of internal organs Curly eyelashes Hypoplastic male external genitalia Esophageal stenosis Hypertropia Left-to-right shunt Projectile vomiting Malrotation of colon Talipes Otitis media with effusion Pulmonary arterial hypertension Abnormality of the umbilicus Hypoplastic radial head Dysplastic tricuspid valve Cataract Visual impairment Absent hand Supernumerary ribs Oligodactyly Optic nerve coloboma Ectrodactyly Hiatus hernia Aspiration pneumonia Esophagitis Hypoplastic labia majora Abnormality of the gastrointestinal tract Thick upper lip vermilion Phocomelia Recurrent hypoglycemia Volvulus Panhypopituitarism Peters anomaly Short sternum Perimembranous ventricular septal defect Hand oligodactyly Type II diabetes mellitus Clonus Status epilepticus Abnormality of the renal tubule Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Hemianopia Abnormality of the cerebellar vermis Anterior hypopituitarism Tubulointerstitial nephritis Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Reduced consciousness/confusion Gait imbalance Stroke-like episode Ileus Seborrheic dermatitis Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Psychotic episodes Crohn's disease Aortic dissection Left bundle branch block Chronic fatigue Asthenia Orthostatic tachycardia Apathy Abnormal head movements Right bundle branch block Atrial flutter Prominent ear helix Sinus bradycardia Prolonged QRS complex Third degree atrioventricular block Shortened PR interval Left posterior fascicular block Complete heart block with narrow QRS complexes Mitral valve prolapse Morphological abnormality of the inner ear Hemeralopia Cochlear degeneration Abnormal macular morphology Spotty hypopigmentation Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Progressive night blindness Abnormal mitochondrial shape Morphological abnormality of the vestibule of the inner ear Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Renal tubular dysfunction Facial diplegia Psychosis Schizophrenia Pancreatitis External ophthalmoplegia Ragged-red muscle fibers Ischemic stroke Hypopigmented skin patches Mutism Goiter Purpura Growth abnormality Chronic kidney disease Hypercalciuria Bilateral ptosis Aortic aneurysm Abnormality of mitochondrial metabolism Macular degeneration Type I diabetes mellitus Personality changes Abnormality of retinal pigmentation Ventricular hypertrophy Hemiparesis Involuntary movements Decreased body weight Left ventricular hypertrophy Gingival overgrowth Hallucinations Hypogonadotrophic hypogonadism Cerebral visual impairment Sepsis Cardiac arrest Truncal ataxia EMG abnormality Generalized hirsutism Ophthalmoparesis Intestinal obstruction Cardiorespiratory arrest Vitiligo Abnormality of immune system physiology Pulmonary embolism Distal arthrogryposis Atopic dermatitis Hashimoto thyroiditis Abnormality of visual evoked potentials Xerostomia Rhabdomyolysis Hypoparathyroidism Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Delusions Thyroiditis Hyperthyroidism Aplasia/Hypoplasia of the cerebellum Aphasia Bifid scrotum Mask-like facies Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Abnormality of neuronal migration Overlapping toe Vestibular dysfunction Basal ganglia calcification Dysphasia Visual field defect Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Glomerulopathy Vesicoureteral reflux Thick eyebrow Triangular face Neonatal hypotonia Generalized bronze hyperpigmentation Abnormality of prenatal development or birth Abnormality of the Leydig cells Low maternal serum estriol Midshaft hypospadias Abnormal urine potassium concentration Induced vaginal delivery Dilatation Edema Midface retrusion Obesity Pectus excavatum Pes cavus Spasticity Mononeuropathy Abnormality of eye movement Decreased taste sensation Self-mutilation Osteolytic defects of the phalanges of the hand Generalized osteoporosis Chronic infection Decreased sensory nerve conduction velocity Joint stiffness Painless fractures due to injury Ainhum Decreased corneal reflex Acral ulceration Autoamputation of digits Neuropathic arthropathy Episodic hyperhidrosis Foot acroosteolysis Abnormality of the cerebral white matter Abnormality of movement Decreased number of peripheral myelinated nerve fibers Female external genitalia in individual with 46,XY karyotype Decreased plasma carnitine Dilation of lateral ventricles Abnormality of the retinal vasculature Increased circulating ACTH level Ketonuria Generalized dystonia Malignant hyperthermia Bulbar palsy Hypovolemia Malnutrition Spastic diplegia Intracranial hemorrhage Adrenocorticotropic hormone excess Encephalitis Leukoencephalopathy Inability to walk Abnormal sex determination Dyskinesia Metabolic acidosis Decreased circulating androgen level Abnormality of cholesterol metabolism Gliosis Delayed myelination Aciduria Cerebral palsy Neuronal loss in central nervous system Abnormality of extrapyramidal motor function Choreoathetosis Large fontanelles Hypernatriuria Joint dislocation Arthropathy Axonal degeneration Acute encephalopathy Scapular winging Shoulder girdle muscle atrophy Atrial arrhythmia Increased LDL cholesterol concentration Abnormal atrioventricular conduction Supraventricular arrhythmia Proximal muscle weakness in lower limbs Distal lower limb muscle weakness Achilles tendon contracture Shoulder girdle muscle weakness Distal lower limb amyotrophy Limb-girdle muscle weakness Proximal amyotrophy Vocal cord paralysis Progressive proximal muscle weakness Sprengel anomaly Proximal lower limb amyotrophy Congenital muscular dystrophy Ventricular arrhythmia Respiratory insufficiency due to muscle weakness Back pain Lipodystrophy Limb-girdle muscular dystrophy Spinal muscular atrophy Myotonia Ankle contracture Toe walking Calf muscle hypertrophy Mildly elevated creatine phosphokinase Difficulty climbing stairs Spinal rigidity Rimmed vacuoles Peroneal muscle atrophy Proximal muscle weakness in upper limbs Osteomyelitis Foot dorsiflexor weakness Lower limb muscle weakness Urinary incontinence Peripheral demyelination Abnormal blistering of the skin Chronic diarrhea Hypohidrosis Abnormal autonomic nervous system physiology Myocardial infarction Osteolysis Sleep apnea Limb muscle weakness Oral-pharyngeal dysphagia Epiphora Anhidrosis Falls Hyperkeratosis Limb-girdle muscle atrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Knee flexion contracture Peroneal muscle weakness Scapuloperoneal amyotrophy Proximal upper limb amyotrophy Type 1 muscle fiber atrophy Proximal spinal muscular atrophy Restricted neck movement due to contractures Hypertriglyceridemia Absent muscle fiber emerin Progressive muscle weakness Frequent falls Recurrent infections Abnormality of metabolism/homeostasis Palpitations Fasting hypoglycemia Infantile encephalopathy Renal cyst Ventricular septal defect Pneumonia Clinodactyly of the 5th finger Inguinal hernia Clinodactyly Thrombocytopenia Syndactyly Long philtrum Behavioral abnormality Clitoral hypertrophy Bilateral cryptorchidism Intellectual disability, severe Atrial septal defect Hydrocephalus Anteverted nares Abnormality of the skeletal system Brachycephaly Micrognathia Abnormal subcutaneous fat tissue distribution Elevated aldolase level Male pseudohermaphroditism Generalized hyperpigmentation Decreased fertility Neoplasm Strabismus Intrauterine growth retardation Cleft palate Low-set ears Delayed speech and language development Depressed nasal bridge Bilateral talipes equinovarus Myopia Severe short stature Narrow mouth Cortical sclerosis Downturned corners of mouth Astigmatism Cleft upper lip Thin vermilion border EMG: myopathic abnormalities Pulmonary hypoplasia Cyanosis High, narrow palate Toe syndactyly Small hand Highly arched eyebrow Single transverse palmar crease Tapered finger Sleep disturbance Microcornea Micromelia Pulmonic stenosis Reduced bone mineral density Camptodactyly Retrognathia Thin upper lip vermilion Conductive hearing impairment Gynecomastia Aggressive behavior Telecanthus Hyperpigmentation of the skin Synophrys Postnatal growth retardation Autistic behavior Craniosynostosis Prominent nasal bridge Small for gestational age Hip dislocation Cortical thickening of long bone diaphyses Craniofacial osteosclerosis Retinal hemorrhage Elevated circulating follicle stimulating hormone level Bone marrow hypocellularity Increased bone mineral density Bone pain Diplopia Renal salt wasting Lumbar hyperlordosis Limitation of joint mobility Sex reversal Genu valgum Decreased circulating cortisol level Abnormality of the nervous system Hepatosplenomegaly Pes planus Skeletal dysplasia Absence of secondary sex characteristics Coxa valga Urogenital sinus anomaly Glutaric aciduria Glutaric acidemia Macrocephaly at birth Symmetrical progressive peripheral demyelination Ketonemia Subdural hemorrhage Ambiguous genitalia, male Aplasia of the uterus Increased circulating renin level Decreased circulating aldosterone level Frontal bossing Splenomegaly Elevated circulating luteinizing hormone level Abnormal vagina morphology Vasculitis Leukopenia Optic nerve compression Lower limb pain Abnormality of femur morphology Extramedullary hematopoiesis Otosclerosis Abnormality of the humerus Urinary retention Abnormal diaphysis morphology Sclerosis of skull base Slender build Cranial hyperostosis Limb pain Abnormality of the radius Cranial nerve compression Diaphyseal sclerosis Diaphyseal dysplasia Abnormality of tibia morphology Facial paralysis Increased intracranial pressure Elevated erythrocyte sedimentation rate Tinnitus Adrenal hyperplasia Abnormality of pelvic girdle bone morphology Hyperaldosteronism Hyperostosis Reduced subcutaneous adipose tissue Metaphyseal dysplasia Abnormality of the ulna Abnormality of the vertebral column Aplasia/Hypoplasia of the radius Adrenal hypoplasia Abnormality of the skull Gangrene Raynaud phenomenon Complete heart block with broad QRS complexes


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