Frontal bossing, and Amenorrhea

Diseases related with Frontal bossing and Amenorrhea

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


Top matches:

High 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

High match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

High match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Mendelian

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

Learn more

Other less relevant matches:

High match COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS


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

High match GAPO SYNDROME


GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

GAPO SYNDROME Is also known as growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|odontotrichomelic syndrome|growth retardation, alopecia, pseudoanodontia, and optic atrophy

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAPO SYNDROME

High match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

High match ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA


Isolated growth hormone deficiency type V is characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary (Argente et al., 2014).

ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA Is also known as congenital ighd type ia|congenital isolated growth hormone deficiency type ia|congenital isolated gh deficiency type ia

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Frontal bossing
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA

High match CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY


Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.

CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY Is also known as disordered steroidogenesis due to por deficiency|congenital adrenal hyperplasia due to cytochrome por deficiency|pord|adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency|por deficiency

Related symptoms:

  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Low-set ears
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

Medium match HOLT-ORAM SYNDROME; HOS


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

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

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Delayed skeletal maturation 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 Amenorrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Delayed puberty Midface retrusion Diabetes mellitus Hypogonadism Decreased testicular size Hypertension Sleep apnea Seizures Hypothyroidism Hypertelorism Sensorineural hearing impairment Abnormality of the dentition Hyperhidrosis Growth hormone deficiency Hypotrichosis Patent ductus arteriosus Fatigue Depressed nasal bridge Failure to thrive Ptosis Choanal atresia Scoliosis Decreased serum testosterone level Hyperreflexia Alopecia Micropenis Clinodactyly Anteverted nares Primary amenorrhea Mandibular prognathia High forehead Broad forehead Hydrocephalus

Rare Symptoms - Less than 30% cases


Hepatosplenomegaly Decreased serum estradiol Kyphosis Vomiting Cleft upper lip Muscular hypotonia Ventricular septal defect Nystagmus Full cheeks Global developmental delay Flexion contracture Anemia Heart block Depressivity Flat occiput Sparse eyebrow Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Bilateral sensorineural hearing impairment Dysmenorrhea Polyneuropathy Palpebral edema Agenesis of corpus callosum Constipation Pneumonia Severe postnatal growth retardation Abnormality of the skeletal system Hypoplastic left heart Hoarse voice Aspiration Mitral valve prolapse Absence of secondary sex characteristics Macroglossia Micrognathia Acne Polydactyly Abnormal heart morphology Aspiration pneumonia Low-set ears Generalized hyperpigmentation Edema Epistaxis Abnormality of the pinna Atrial septal defect Generalized hypotonia Hypersomnia Hypotension EEG abnormality Osteopenia Tall stature Abnormal cardiac septum morphology Camptodactyly Respiratory insufficiency High palate Brachycephaly Choanal stenosis Acanthosis nigricans Prominent forehead Dysarthria Gait disturbance Increased intracranial pressure Cognitive impairment Hypopigmented skin patches Conductive hearing impairment Respiratory distress Diarrhea Downslanted palpebral fissures Visual impairment Craniosynostosis Cleft lip Dental malocclusion Strabismus Optic atrophy Intellectual disability, mild Proptosis Snoring Panniculitis Truncal obesity Postnatal growth retardation Galactorrhea Obesity Microcephaly Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Stiff skin Bilateral camptodactyly Myelofibrosis Cervical lymphadenopathy Generalized lymphadenopathy Facial telangiectasia Corneal arcus Deep plantar creases Episcleritis Hyperplasia of the maxilla Anterior hypopituitarism Oligomenorrhea Neoplasm of the endocrine system Broad foot Abnormal toenail morphology Abnormality of the endocrine system Femoral bowing Disproportionate tall stature Bifid scrotum Dysuria Clitoral hypertrophy Polycystic ovaries Reduced bone mineral density Accelerated skeletal maturation Ambiguous genitalia Paraganglioma Deep palmar crease Hirsutism Arachnodactyly Narrow mouth Osteoporosis Pancreatic hypoplasia Hypospadias Pheochromocytoma Cryptorchidism Mild microcephaly Long penis Broad finger Recurrent pharyngitis Abnormality of cardiovascular system physiology Blue sclerae Type I diabetes mellitus Elbow flexion contracture Gynecomastia Hyperpigmentation of the skin Gingival overgrowth Telangiectasia Bronchiectasis Macrodactyly Hypertrichosis Hypertriglyceridemia Broad jaw Plagiocephaly Epidermal acanthosis Cardiomegaly Overgrowth Wide intermamillary distance Abnormality of reproductive system physiology Recurrent fractures Flat face Ichthyosis Lymphadenopathy Abnormality of the foot Malabsorption Osteolysis Azoospermia Pituitary prolactin cell adenoma Severe sensorineural hearing impairment Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Decreased fertility Communicating hydrocephalus Varicose veins Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Episodic fever Lipodystrophy Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Hyperglycemia Stridor Psoriasiform dermatitis Growth hormone excess Impotence Joint swelling Long face Atrioventricular canal defect Absent thumb Limited elbow extension Petechiae Right bundle branch block Bundle branch block Menorrhagia Hypoplasia of the ulna Hypertrophic cardiomyopathy Synophrys Paresthesia Bowing of the legs Triphalangeal thumb Anxiety Atrioventricular block Hypoplasia of the radius Wide nose Eosinophilia Aortic regurgitation Finger clinodactyly Horseshoe kidney Tapered finger Migraine Thick lower lip vermilion Aortic valve stenosis Osteoarthritis Short humerus Oligodactyly Bradycardia Hematemesis Lactose intolerance Tibial torsion Aplasia of the pectoralis major muscle Quadricuspid aortic valve Mesoaxial polydactyly Short digit Neoplasm Aplasia of the ulna Partial duplication of thumb phalanx Macrotia Abnormality of the carpal bones Small thenar eminence Total anomalous pulmonary venous return Coarse facial features Phocomelia Anomalous pulmonary venous return Complete atrioventricular canal defect Ecchymosis Arthralgia Allergy Secundum atrial septal defect Down-sloping shoulders Truncus arteriosus Short clavicles Thoracic scoliosis Absent radius Mitral regurgitation Thickened skin Aortic root aneurysm Perineal hypospadias Adrenocorticotropic hormone excess Adrenogenital syndrome Hypoplasia of the vagina Increased serum testosterone level Ambiguous genitalia, female Decreased fertility in females Congenital adrenal hyperplasia Increased circulating ACTH level Enlarged polycystic ovaries Abnormality of the menstrual cycle Urogenital sinus anomaly Ambiguous genitalia, male Widely spaced teeth Female external genitalia in individual with 46,XY karyotype Abnormal vagina morphology Ovarian cyst Decreased circulating cortisol level Adrenal hyperplasia Adrenal hypoplasia Male pseudohermaphroditism Primary adrenal insufficiency Cerebral palsy Growth abnormality Large hands Patellar subluxation Spinal canal stenosis Premature adrenarche Decreased fertility in males Abnormal vertebral morphology Abnormality of cardiovascular system morphology Short thumb Generalized hirsutism Abnormality of the fingernails Atrial fibrillation Coarctation of aorta Abnormality of the cardiovascular system Gastrointestinal hemorrhage Asthma Bruising susceptibility Nausea Pectus carinatum Thrombocytopenia Syndactyly Congenital adrenal hypoplasia Cleft palate Maternal virilization in pregnancy Androgen insufficiency Ectopic adrenal gland Abnormality of the labia majora Hyperpigmented genitalia Female sexual dysfunction Abnormality of prenatal development or birth Increased circulating androgen level Decreased circulating androgen level Enlarged ovaries Pear-shaped nose Abnormal sex determination Pectus excavatum Aminoaciduria Retinopathy Decreased serum insulin-like growth factor 1 Dysphagia Tremor Macrocephaly Motor delay Feeding difficulties Spasticity Muscle weakness Ataxia Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Streak ovary Hyporeflexia Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Anodontia Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Premature ovarian insufficiency Hyperlipidemia Purpura Hallucinations Short neck Dementia Sparse scalp hair Sudden cardiac death Dysphonia Leukoencephalopathy Abnormal autonomic nervous system physiology Muscle stiffness Leukodystrophy Clonus Diplopia Cerebral calcification Peripheral demyelination Chorea Gliosis Tetraplegia Respiratory failure Sleep disturbance Dysmetria Abnormality of eye movement Nausea and vomiting Abnormality of the cerebral white matter Neurological speech impairment Cough Abnormal pyramidal sign Hyperlordosis Developmental regression Facial palsy Weight loss Choreoathetosis Myocardial infarction Precocious puberty Trigonocephaly Gonadoblastoma Coronal craniosynostosis Abnormality of the skull Turricephaly Papilledema Shallow orbits Scaphocephaly Syringomyelia Gonadal dysgenesis Keratitis Melanocytic nevus Atresia of the external auditory canal Sagittal craniosynostosis Arnold-Chiari malformation Torticollis Conjunctivitis Narrow palate Amblyopia Dental crowding Convex nasal ridge Hypoplasia of the maxilla Iris coloboma Cerebellar hypoplasia Headache Abnormal facial shape Cloverleaf skull Lambdoidal craniosynostosis Fine hair Mental deterioration Psychosis Abnormality of extrapyramidal motor function Dehydration Prominent nose Triangular face Sensory neuropathy Abnormality of movement Arthrogryposis multiplex congenita Prominent nasal bridge Sparse hair Protruding ear Babinski sign Craniofacial dysostosis Abnormality of metabolism/homeostasis Dystonia Peripheral neuropathy Delayed speech and language development Cartilaginous trachea Narrow internal auditory canal Multiple suture craniosynostosis Dysgerminoma Abnormal sacrum morphology Abnormality of the nasopharynx Short upper lip Abnormality of the cervical spine Encephalitis Self-injurious behavior Apnea Sparse eyelashes Ectrodactyly Hypoplastic nipples Prematurely aged appearance Keratoconus Abnormality of the thorax Hyperextensible skin Abnormality of pelvic girdle bone morphology Hemangioma Abnormality of the outer ear Abnormal palate morphology Atherosclerosis Sparse and thin eyebrow Abnormality of the clavicle Nephrolithiasis Abnormality of the metaphysis Abnormal form of the vertebral bodies Small nail Ectodermal dysplasia Delayed eruption of teeth Everted lower lip vermilion Joint hyperflexibility Umbilical hernia Glaucoma Arrhythmia Long philtrum Underdeveloped supraorbital ridges Skin tags Ectopic anterior pituitary gland Wide nasal bridge Abnormality of the kidney Low-set, posteriorly rotated ears Pes planus Dyspnea Hyperkeratosis Posteriorly rotated ears Severe short stature Hernia Splenomegaly Ventriculomegaly Fever Brachydactyly Decreased skull ossification Hepatomegaly Epicanthus Early balding Hypoplastic areola Tetraamelia Asymmetry of the thorax Thick nasal alae Fingernail dysplasia Nasolacrimal duct obstruction Abnormality of the cerebral vasculature Abnormality of the neck Oligospermia Myopia Anterior pituitary agenesis Oral-pharyngeal dysphagia Large face Jaundice Polyhydramnios Malar flattening Short nose Intellectual disability, severe Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Pseudobulbar signs Aqueductal stenosis Deeply set eye Bulbar signs Hypothermia Megalencephaly Poor coordination Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Progressive spasticity Bowel incontinence Dysphasia Emotional lability Hypoglycemia Abnormality of the eye Osteoporosis of vertebrae Concave nasal ridge Abnormality of secondary sexual hair Decreased cervical spine mobility Moon facies Abnormal prolactin level Pituitary dwarfism Aplasia/Hypoplasia of the breasts Septo-optic dysplasia Ectopic posterior pituitary Decreased circulating ACTH level Median cleft lip and palate Anterior pituitary hypoplasia Pituitary hypothyroidism Short attention span Severe global developmental delay Hypopituitarism Absent septum pellucidum Prolonged neonatal jaundice Abnormality of digit Delayed cranial suture closure Adrenal insufficiency Optic nerve hypoplasia Holoprosencephaly Depressed nasal ridge Ascites Infertility Pulmonic stenosis Cortical diaphyseal thickening of the upper limbs



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

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more