Frontal bossing, and Fatigue

Diseases related with Frontal bossing and Fatigue

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

Top matches:

High match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTONIA-CYSTINURIA SYNDROME

Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.

CONGENITAL CONTRACTURAL ARACHNODACTYLY Is also known as distal arthrogryposis type 9|cca syndrome|contractural arachnodactyly, congenital|beals syndrome|beals-hecht syndrome|cca

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Micrognathia
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL CONTRACTURAL ARACHNODACTYLY

Other less relevant matches:

High match ACROMEGALY

Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

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

Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

MARSHALL-SMITH SYNDROME Is also known as accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MARSHALL-SMITH SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Fatigue

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Fatigue. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Patent ductus arteriosus Muscular hypotonia Hepatosplenomegaly Generalized hypotonia Short stature Growth delay Kyphosis Scoliosis Micrognathia Flexion contracture Anemia Abnormal facial shape Hearing impairment Hypertelorism Anteverted nares Muscle weakness Macroglossia Growth hormone deficiency Motor delay Hypogonadism Retrognathia Hypertension Neoplasm Malar flattening Vertigo Abnormal cardiac septum morphology Osteopenia Prominent forehead Abnormality of cardiovascular system morphology Pain Respiratory distress Atrial septal defect Elevated erythrocyte sedimentation rate Vasculitis Hepatomegaly Splenomegaly Proptosis Arthralgia Migraine Pneumonia Bruising susceptibility

Rare Symptoms - Less than 30% cases

Microcephaly Kyphoscoliosis Abnormal vertebral morphology Gastrointestinal hemorrhage Bowing of the long bones Mitral regurgitation Mitral valve prolapse Delayed puberty Talipes Pectus carinatum Neurological speech impairment Infertility Slender build Abnormal heart morphology Poor appetite Clinodactyly Hypoplastic left heart Syndactyly Septo-optic dysplasia Limitation of joint mobility Hernia Ataxia Optic atrophy Megalocornea Patellar subluxation Pectus excavatum Cataract Short neck Sleep apnea Generalized hirsutism Hoarse voice Tall stature Diarrhea Nausea Vomiting Abnormality of the skeletal system Protruding tongue Short nose Pes planus Midface retrusion Synophrys Broad forehead Hypertrophic cardiomyopathy Mandibular prognathia Constipation Hyperhidrosis Depressivity High forehead Agenesis of corpus callosum Polydactyly Spinal canal stenosis Aciduria Talipes equinovarus Reduced bone mineral density Feeding difficulties in infancy Facial palsy Intellectual disability, moderate Macrotia Intellectual disability, severe Epicanthus Ptosis Ventricular septal defect Uveitis Amyloidosis Leukocytosis Urticaria Increased intracranial pressure Arthrogryposis multiplex congenita Purpura Overgrowth Lymphadenopathy Papule Skin rash Arthritis Myalgia Skeletal dysplasia Blindness Edema Fever Sensorineural hearing impairment Dolichocephaly Headache Increased body weight Long eyelashes High palate Diaphyseal sclerosis Cleft palate Elevated aldolase level Abnormal subcutaneous fat tissue distribution Cortical thickening of long bone diaphyses Cortical sclerosis Craniofacial osteosclerosis Optic nerve compression Diaphyseal dysplasia Cranial nerve compression Short philtrum Abnormality of the radius Choanal atresia Limb pain Laryngeal hypoplasia Blue sclerae Cranial hyperostosis Joint hyperflexibility Pulmonary arterial hypertension Recurrent fractures Short mandibular rami Macrogyria Atlantoaxial dislocation Irregular dentition Short thumb Umbilical hernia Eosinophilia Eclabion Dicarboxylic aciduria Aortic regurgitation Finger clinodactyly Horseshoe kidney Recurrent aspiration pneumonia Aortic valve stenosis Bradycardia Conductive hearing impairment Lower limb pain Atrial fibrillation Apnea Epistaxis Coarctation of aorta Abnormality of the cardiovascular system Craniosynostosis Asthma Thin skin Open mouth Thrombocytopenia Sclerosis of skull base Accelerated skeletal maturation Abnormal diaphysis morphology Delayed eruption of teeth Coxa valga Bone marrow hypocellularity Increased bone mineral density Bone pain Diplopia Anorexia Lumbar hyperlordosis Waddling gait Bullet-shaped middle phalanges of the hand Sensory neuropathy Tinnitus Genu valgum Carious teeth Muscular dystrophy Paralysis Hyperlordosis Abnormality of the nervous system Large sternal ossification centers Proximal muscle weakness Thick eyebrow Difficulty walking Leukopenia Easy fatigability Hypoplasia of the radius Abnormality of the ulna Urinary retention Abnormality of the humerus Otosclerosis Extramedullary hematopoiesis Abnormality of femur morphology Hirsutism Polymicrogyria Abnormality of tibia morphology Facial paralysis Raynaud phenomenon Abnormality of pelvic girdle bone morphology Gangrene Abnormality of the skull Short distal phalanx of finger Aplasia/Hypoplasia of the radius Abnormality of the vertebral column Metaphyseal dysplasia Reduced subcutaneous adipose tissue Prominence of the premaxilla Hyperostosis Cachexia Omphalocele Triphalangeal thumb Atrioventricular block Abdominal distention Conjunctivitis Feeding difficulties Recurrent pneumonia Nephrotic syndrome Optic disc pallor Eczema Dehydration Ventriculomegaly Sepsis Retinal dystrophy Intestinal obstruction Hypoplasia of the corpus callosum Incoordination Cough Decreased body weight Increased susceptibility to fractures Nyctalopia Overfolded helix Erythema Pallor Slender long bone Apathy Hypermelanotic macule Postnatal growth retardation Increased IgA level Low-set ears Pharyngitis Serositis Cervical lymphadenopathy Optic neuritis Neutrophilia Erysipelas Porokeratosis Neuritis Chills Gingival overgrowth Recurrent aphthous stomatitis Peritonitis Large forehead Acrocyanosis Posterior subcapsular cataract Poor coordination Peripheral visual field loss Episodic fever Subcapsular cataract Colitis Cerebral atrophy Abdominal pain Laryngomalacia Absent thumb Down-sloping shoulders Truncus arteriosus Heart block Short clavicles Thoracic scoliosis Absent radius Cerebellar hypoplasia Short humerus Atrioventricular canal defect Limited elbow extension Allergy Petechiae Right bundle branch block Bundle branch block Menorrhagia Hypoplasia of the ulna Bowing of the legs Upper airway obstruction Villous atrophy Abnormality of the larynx Short sternum Secundum atrial septal defect Ecchymosis Rod-cone dystrophy Mesoaxial polydactyly Renal insufficiency Pachygyria Quadricuspid aortic valve Lactose intolerance Tibial torsion Hypoplasia of the odontoid process Aplasia of the pectoralis major muscle Glossoptosis Shallow orbits Short digit Complete atrioventricular canal defect Aplasia of the ulna Partial duplication of thumb phalanx Obstructive sleep apnea Abnormality of the carpal bones Small thenar eminence Hematemesis Total anomalous pulmonary venous return Phocomelia Choanal stenosis Anomalous pulmonary venous return Oligodactyly Neurocytoma Glaucoma Abnormality of the musculature Abnormally large globe Single umbilical artery Patellar dislocation Scaphocephaly Esophageal atresia Distal arthrogryposis Aortic root aneurysm Hip contracture Ulnar deviation of finger Keratoconus Slender finger Interrupted aortic arch Disproportionate tall stature Decreased muscle mass Metatarsus adductus Tracheoesophageal fistula Clubbing Congenital contracture Aortic aneurysm Ectopia lentis Adducted thumb Bicuspid aortic valve Duodenal atresia Hypoplasia of the musculature Elbow flexion contracture Long face Cerebral palsy Widely spaced teeth Acanthosis nigricans Abnormality of the fingernails Thickened skin Osteoarthritis Thick lower lip vermilion Full cheeks Tapered finger Wide nose Paresthesia Spinal deformities Anxiety Coarse facial features Diabetes mellitus Abnormality of the dentition Calf muscle hypoplasia Congenital kyphoscoliosis Abnormally folded helix Crumpled ear Iridodonesis Lens subluxation Knee flexion contracture Interphalangeal joint contracture of finger Acne Juvenile rheumatoid arthritis Posteriorly rotated ears Areflexia Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Arthropathy Neonatal hypotonia Abnormal joint morphology Progressive sensorineural hearing impairment Joint dislocation Meningitis Premature birth Nausea and vomiting EEG abnormality Macrocephaly Brachydactyly Visual impairment Acidosis Lactic acidosis Intestinal malrotation Myopia Chest pain Arachnodactyly Camptodactyly of finger Joint stiffness Abnormality of the pinna Camptodactyly Joint laxity Brachycephaly Arrhythmia Dilatation Cystinuria Decreased fetal movement Severe failure to thrive Neonatal hypoglycemia Central hypotonia Polyphagia Abnormality of mitochondrial metabolism Nasal speech Tented upper lip vermilion Severe muscular hypotonia Hypocalcemia Hypergonadotropic hypogonadism Nephrolithiasis Growth abnormality Large hands Hyperactivity Severe global developmental delay Optic nerve hypoplasia Holoprosencephaly Hypogonadotrophic hypogonadism Aspiration Depressed nasal ridge Amenorrhea Decreased testicular size Hypotension Ascites Pulmonic stenosis Abnormality of the eye Delayed cranial suture closure Deeply set eye Hypoglycemia Jaundice Polyhydramnios Hypothyroidism Delayed skeletal maturation Strabismus Triangular nasal tip Hemoglobin H Reduced alpha/beta synthesis ratio Adrenal insufficiency Abnormality of digit Hypochromic anemia Aplasia/Hypoplasia of the breasts Gait disturbance Skeletal muscle atrophy Ectopic anterior pituitary gland Anterior pituitary agenesis Osteoporosis of vertebrae Abnormality of secondary sexual hair Decreased cervical spine mobility Moon facies Abnormal prolactin level Pituitary dwarfism Ectopic posterior pituitary Prolonged neonatal jaundice Decreased circulating ACTH level Median cleft lip and palate Anterior pituitary hypoplasia Absence of secondary sex characteristics Pituitary hypothyroidism Concave nasal ridge Short attention span Aspiration pneumonia Severe postnatal growth retardation Hypopituitarism Absent septum pellucidum Flat forehead Asymmetry of the thorax Impotence Pheochromocytoma Abnormality of reproductive system physiology Broad jaw Macrodactyly Dysmenorrhea Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Hypersomnia Paraganglioma Long penis Anterior hypopituitarism Cryptorchidism Deep palmar crease Neoplasm of the endocrine system Dysuria Abnormality of the endocrine system Abnormal toenail morphology Broad foot Growth hormone excess Joint swelling Palpebral edema Generalized hyperpigmentation Cortical diaphyseal thickening of the upper limbs Wide nasal bridge Hypochromic microcytic anemia Spina bifida Aplasia/Hypoplasia of the earlobes Brain neoplasm Osteosarcoma Myelomeningocele Underdeveloped supraorbital ridges Microcytic anemia Aplasia/Hypoplasia of the eyebrow Supernumerary nipple Radial deviation of finger Polycystic kidney dysplasia Short toe Downslanted palpebral fissures Dental crowding Abnormality of the genital system Webbed neck Congenital cataract Microtia Abnormality of the kidney Low-set, posteriorly rotated ears Micropenis Hypospadias Obesity Long philtrum Distal widening of metacarpals


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