Frontal bossing, and Headache

Diseases related with Frontal bossing and Headache

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


Top matches:

High match CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

High match JACKSON-WEISS SYNDROME; JWS


JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

High match SCLEROSTEOSIS


Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

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

Medium match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME


Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Medium match CROUZON DISEASE


Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

Medium 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

Medium match CAMURATI-ENGELMANN DISEASE


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

Medium match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


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

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

Symptoms // Phenotype % cases
Proptosis Common - Between 50% and 80% cases
Mandibular prognathia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Increased intracranial pressure Uncommon - Between 30% and 50% cases
Migraine Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy Midface retrusion Ptosis Strabismus Intellectual disability Acanthosis nigricans Turricephaly Seizures Hearing impairment Fatigue Visual impairment Hepatomegaly Craniosynostosis Convex nasal ridge Hypoplasia of the maxilla Depressivity Dental malocclusion Sensorineural hearing impairment Splenomegaly Abnormal facial shape Elevated erythrocyte sedimentation rate Vasculitis Craniofacial dysostosis Hepatosplenomegaly Arthralgia Global developmental delay Ataxia Malar flattening Hydrocephalus Downslanted palpebral fissures Brachycephaly Cloverleaf skull Brachydactyly

Rare Symptoms - Less than 30% cases


Abnormality of the skull Blindness Delayed puberty Conjunctivitis Fever Anemia Sleep apnea Growth delay Apathy Vertigo Limitation of joint mobility Abnormal sacrum morphology Neoplasm Nausea Hypogonadism Kyphosis Rod-cone dystrophy Vomiting Hyperhidrosis Cataract Abnormality of the dentition Choanal stenosis Skeletal dysplasia Amyloidosis Short stature Failure to thrive Inflammatory abnormality of the eye Pain Respiratory insufficiency Renal insufficiency High forehead Conductive hearing impairment Uveitis Choanal atresia Scoliosis Leukocytosis Urticaria Purpura Lymphadenopathy Papule Skin rash Arthritis Myalgia Arnold-Chiari malformation Melanocytic nevus Flexion contracture Sensory neuropathy Hypertrophic cardiomyopathy Depressed nasal bridge Coronal craniosynostosis Increased bone mineral density Anterior plagiocephaly Trigonocephaly Brachyturricephaly Overgrowth Bicoronal synostosis Paralysis Facial palsy Abnormality of pelvic girdle bone morphology Hyperactivity Hyperostosis Cleft palate Tall stature Shallow orbits Syndactyly Genu valgum Epidermal acanthosis Abnormal palate morphology Acrocyanosis Skeletal muscle atrophy Anterior hypopituitarism Pheochromocytoma Long penis Paraganglioma Recurrent aphthous stomatitis Glaucoma Gait disturbance Poor coordination Deep plantar creases Hypersomnia Galactorrhea Broad jaw Pituitary prolactin cell adenoma Peritonitis Muscle weakness Posterior subcapsular cataract Deep palmar crease Large forehead Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Macrodactyly Dysmenorrhea Neoplasm of the endocrine system Chills Macroglossia Hoarse voice Thickened skin Neutrophilia Mitral regurgitation Osteoarthritis Thick lower lip vermilion Full cheeks Tapered finger Abnormality of the fingernails Wide nose Long face Paresthesia Synophrys Optic neuritis Broad forehead Cervical lymphadenopathy Serositis Generalized hirsutism Widely spaced teeth Increased IgA level Joint swelling Peripheral visual field loss Dysuria Abnormality of the endocrine system Neuritis Abnormal toenail morphology Broad foot Growth hormone excess Palpebral edema Cerebral palsy Spinal canal stenosis Generalized hyperpigmentation Impotence Large hands Porokeratosis Acne Erysipelas Growth abnormality Pes planus Constipation Episodic fever Extramedullary hematopoiesis Erythema Abnormal diaphysis morphology Nyctalopia Cough Urinary retention Abnormality of the humerus Otosclerosis Abnormality of femur morphology Sclerosis of skull base Abnormality of tibia morphology Slender build Facial paralysis Abnormality of the ulna Raynaud phenomenon Gangrene Anxiety Lower limb pain Cranial hyperostosis Aplasia/Hypoplasia of the radius Optic nerve compression Microcephaly Generalized hypotonia Elevated aldolase level Abnormal subcutaneous fat tissue distribution Cortical thickening of long bone diaphyses Cortical sclerosis Craniofacial osteosclerosis Diaphyseal dysplasia Limb pain Diaphyseal sclerosis Cranial nerve compression Pneumonia Abdominal pain Postnatal growth retardation Abnormality of the radius Pallor Poor appetite Abnormality of the vertebral column Subcapsular cataract Recurrent pneumonia Aciduria Dehydration Eczema Optic disc pallor Neurological speech impairment Nephrotic syndrome Long eyelashes Intestinal obstruction Muscular dystrophy Hyperlordosis Hypermelanotic macule Feeding difficulties in infancy Abnormality of the nervous system Diarrhea Proximal muscle weakness Difficulty walking Gastrointestinal hemorrhage Sepsis Metaphyseal dysplasia Bone pain Reduced subcutaneous adipose tissue Cachexia Easy fatigability Tinnitus Leukopenia Coxa valga Bone marrow hypocellularity Diplopia Carious teeth Anorexia Lumbar hyperlordosis Waddling gait Infertility Delayed eruption of teeth Retinal dystrophy Abdominal distention Colitis Abnormal form of the vertebral bodies Coarse facial features Trigeminal neuralgia Spasticity Cortically dense long tubular bones Facial palsy secondary to cranial hyperostosis Curved distal phalanges of the hand Sclerotic scapulae 2-3 finger syndactyly Sclerotic vertebral endplates Peripheral neuropathy Broad clavicles Esodeviation Deviation of finger Diaphyseal thickening Fingernail dysplasia Craniofacial hyperostosis Abnormality of the nose Epicanthus Dysarthria Broad ribs Unsteady gait Sensory impairment Coma Polyneuropathy Distal sensory impairment Cirrhosis Peripheral axonal neuropathy Confusion Tremor Retinopathy Abnormality of the liver Irritability Mental deterioration Photophobia Gait ataxia Encephalopathy Abnormal cortical bone morphology Abnormal cranial nerve morphology Type II diabetes mellitus Increased number of teeth Short metatarsal Abnormality of the pinna Abnormality of the skeletal system Unicoronal synostosis Metopic synostosis Cleft soft palate Visual field defect Broad hallux Triphalangeal thumb Wormian bones Hypotelorism Narrow forehead Hypermetropia Dolichocephaly Myopia 2-3 toe syndactyly Underdeveloped supraorbital ridges Constriction of peripheral visual field Cognitive impairment Anosmia Cutaneous syndactyly Nail dysplasia Esotropia Finger syndactyly Visual loss Wide nasal bridge Nystagmus Split foot Calcaneonavicular fusion Hallux varus Broad metatarsal Abnormality of fibula morphology Symphalangism affecting the phalanges of the hand Broad hallux phalanx Preaxial foot polydactyly Pigmentary retinopathy Status epilepticus Macrotia Cleft lip Narrow palate Amblyopia Dental crowding Primary amenorrhea Amenorrhea Iris coloboma Prominent forehead Hypopigmented skin patches Cerebellar hypoplasia Respiratory distress Short uvula Membranous nephropathy Proportionate short stature Aplasia/Hypoplasia of the cerebellum Glomerulonephritis Torticollis Atresia of the external auditory canal Abnormality of the metacarpal bones Short upper lip Diabetes mellitus Hypertension Cartilaginous trachea Narrow internal auditory canal Multiple suture craniosynostosis Dysgerminoma Abnormality of the nasopharynx Abnormality of the cervical spine Keratitis Lambdoidal craniosynostosis Sagittal craniosynostosis Gonadoblastoma Papilledema Scaphocephaly Syringomyelia Gonadal dysgenesis Laryngomalacia Short metacarpal Intention tremor Atrophy/Degeneration affecting the brainstem EEG abnormality Edema Macrocephaly Biliary tract abnormality Fat malabsorption Iris hypopigmentation Agitation Premature birth Spastic paraparesis Paraparesis Bilateral single transverse palmar creases Hypergonadotropic hypogonadism Sensorimotor neuropathy Cholestasis Hemiparesis Nausea and vomiting Meningitis Nevus Abnormality of neutrophils Hypopigmentation of the skin Dry skin Posteriorly rotated ears Feeding difficulties Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Elevated C-reactive protein level Joint dislocation Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Juvenile rheumatoid arthritis Arthropathy Abnormal joint morphology Progressive sensorineural hearing impairment Reduced bone mineral density Pharyngitis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Lethargy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more