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

High match PITUITARY GIGANTISM

Related symptoms:

  • Proportionate tall stature
  • Increased serum insulin-like growth factor 1
  • Premature pubarche
  • Pituitary growth hormone cell adenoma
  • Pituitary prolactin cell adenoma


SOURCES: ORPHANET

More info about PITUITARY GIGANTISM

High match FAMILIAL INFANTILE GIGANTISM

Related symptoms:

  • Proportionate tall stature
  • Increased serum insulin-like growth factor 1
  • Premature pubarche
  • Diabetic ketoacidosis
  • Pituitary growth hormone cell adenoma


SOURCES: ORPHANET

More info about FAMILIAL INFANTILE GIGANTISM

High match GAPO SYNDROME

The GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) noted that optic atrophy is not a consistent feature of this disorder.

GAPO SYNDROME Is also known as growth retardation, alopecia, pseudoanodontia, and optic atrophy;

Related symptoms:

  • Early balding
  • Prominent scalp veins
  • Dysmenorrhea
  • Asymmetry of the thorax
  • Skin tags


SOURCES: ORPHANET OMIM

More info about GAPO SYNDROME

High match COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH ) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL ), and thyroid-stimulating hormone (TSH; see {188540}), while the production of adrenocorticotrophic hormone (ACTH; see {176830}), luteinizing hormone (LH ), and follicle-stimulating hormone (FSH ) are preserved (Wu et al., 1998). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992). Genetic Heterogeneity of Combined Pituitary Hormone DeficiencyCPHD2 (OMIM ), associated with hypogonadism, is caused by mutation in the PROP1 gene (OMIM ). CPHD3 (OMIM ), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene (OMIM ). CPHD4 (OMIM ) is caused by mutation in the LHX4 gene (OMIM ). CPHD5 (see septooptic dysplasia, {182230}) is caused by mutation in the HESX1 gene (OMIM ). CPHD6 (OMIM ) is caused by mutation in the OTX2 gene (OMIM ).

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as ,

Related symptoms:

  • Decreased cervical spine mobility
  • Ectopic anterior pituitary gland
  • Anterior pituitary agenesis
  • Osteoporosis of vertebrae
  • Abnormality of secondary sexual hair


SOURCES: OMIM ORPHANET

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Medium match ACROMEGALY

Related symptoms:

  • Cortical diaphyseal thickening of the upper limbs
  • Abnormality of reproductive system physiology
  • Broad jaw
  • Macrodactyly
  • Hypersomnia


SOURCES: ORPHANET

More info about ACROMEGALY

Medium match IMAGE SYNDROME

IMAGE syndrome is a rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and steroid replacement therapy commenced. Other reported features in this condition include hypercalciuria and/or hypocalcemia, craniosynostosis, cleft palate, and scoliosis (summary by Balasubramanian et al., 2010).

IMAGE SYNDROME Is also known as image syndrome;

Related symptoms:

  • Metaphyseal dysplasia
  • Adrenal hypoplasia
  • Abnormality of the genital system
  • Epiphyseal dysplasia
  • Hypercalciuria


SOURCES: OMIM ORPHANET

More info about IMAGE SYNDROME

Medium match 2P21 MICRODELETION SYNDROME

Related symptoms:

  • Mitochondrial respiratory chain defects
  • Cystinuria
  • Nasal speech
  • Hypocalcemia
  • Long eyelashes


SOURCES: ORPHANET

More info about 2P21 MICRODELETION SYNDROME

Medium match FRONTONASAL DYSPLASIA WITH ALOPECIA AND GENITAL ANOMALY

FRONTONASAL DYSPLASIA WITH ALOPECIA AND GENITAL ANOMALY Is also known as ;

Related symptoms:

  • Decreased lacrimation
  • Parietal foramina
  • Broad philtrum
  • Bifid nose
  • Conical tooth


SOURCES: ORPHANET OMIM

More info about FRONTONASAL DYSPLASIA WITH ALOPECIA AND GENITAL ANOMALY

Medium match ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY

AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by Smith et al., 2010).

ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY Is also known as amacr deficiency;

Related symptoms:

  • Fat malabsorption
  • Sensorimotor neuropathy
  • Biliary tract abnormality
  • Status epilepticus
  • Iris hypopigmentation


SOURCES: ORPHANET OMIM

More info about ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY

Medium match HYPOTONIA-CYSTINURIA SYNDROME

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

Related symptoms:

  • Cystinuria
  • Contiguous gene syndrome
  • Central hypotonia
  • Neonatal hypoglycemia
  • Polyphagia


SOURCES: OMIM ORPHANET

More info about HYPOTONIA-CYSTINURIA SYNDROME

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

Symptoms // Phenotype % Cases
Depressed nasal bridge 60%
Autosomal recessive inheritance 50%
Mandibular prognathia 40%
Hypogonadism 40%
Global developmental delay 40%
Try adding any of this symptoms in our app

Other less frequent symptoms

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

40% Muscular hypotonia 30% Abnormality of the dentition 30% Anteverted nares 30% Growth delay 30% Visual impairment 30% Low-set ears 30% Nystagmus 30% Seizures 30% Coarse facial features 30% Nephrolithiasis 30% Hypertrophic cardiomyopathy 30% Large hands 30% Fatigue 30% Galactorrhea 30% Hyperhidrosis 30% Cryptorchidism 30% Type II diabetes mellitus 30% Tall stature 30% Delayed skeletal maturation 20% Prominent forehead 20% Depression 20% Agenesis of corpus callosum 20% Hypotrichosis 20% Alopecia 20% Broad forehead 20% Midface retrusion 20% Increased serum insulin-like growth factor 1 20% Proportionate tall stature 20% Macrotia 20% Hypoglycemia 20% Intrauterine growth retardation 20% Hypertelorism 20% Short stature 20% Depressed nasal ridge 20% Hypohidrosis 20% Growth hormone deficiency 20% Failure to thrive 20% Lactic acidosis 20% Intellectual disability, moderate 20% Decreased fetal movement 20% Long eyelashes 20% Nasal speech 20% Cystinuria 20% Macroglossia 20% Thick lower lip vermilion 20% Sparse and thin eyebrow 20% Growth hormone excess 20% Migraine 20% Accelerated skeletal maturation 20% Left ventricular hypertrophy 20% Epicanthus 20% Autosomal dominant inheritance 20% Intellectual disability 20% Delayed cranial suture closure 20% Hypergonadotropic hypogonadism 20% Palpebral edema 20% Prolactin excess 20% Pituitary growth hormone cell adenoma 20% Premature pubarche 20% Short nose 20% Strabismus 20% Dysmenorrhea 20% Sparse eyelashes 20% Pituitary prolactin cell adenoma 20% Long foot 10% Micropenis 10% Hydronephrosis 10% Micromelia 10% Widely spaced teeth 10% Hypercalcemia 10% Hypercalciuria 10% Epiphyseal dysplasia 10% Abnormality of the genital system 10% Cerebral palsy 10% Adrenal hypoplasia 10% Postnatal growth retardation 10% Kyphosis 10% Metaphyseal dysplasia 10% Hypertension 10% Long face 10% Paresthesia 10% Full cheeks 10% Generalized hirsutism 10% Synophrys 10% Anxiety 10% Diabetes mellitus 10% Arthralgia 10% Wide nose 10% Acne 10% Abnormality of the fingernails 10% Osteoarthritis 10% Thickened skin 10% Mitral regurgitation 10% Tapered finger 10% Acanthosis nigricans 10% Hoarse voice 10% Generalized hyperpigmentation 10% Hypospadias 10% Encephalocele 10% Macrocephaly 10% Spasticity 10% Sensorimotor neuropathy 10% Biliary tract abnormality 10% Status epilepticus 10% Iris hypopigmentation 10% Cholestasis 10% Pigmentary retinopathy 10% Encephalopathy 10% Bilateral single transverse palmar creases 10% Cirrhosis 10% Peripheral neuropathy 10% Tremor 10% Hepatomegaly 10% Microcephaly 10% Ataxia 10% Contiguous gene syndrome 10% Central hypotonia 10% Neonatal hypoglycemia 10% Polyphagia 10% Tented upper lip vermilion 10% Retrognathia 10% Dolichocephaly 10% Posteriorly rotated ears 10% Intellectual disability, severe 10% Feeding difficulties in infancy 10% Fat malabsorption 10% Wide nasal bridge 10% Mitochondrial respiratory chain defects 10% Cerebellar vermis hypoplasia 10% Hypocalcemia 10% Low-set, posteriorly rotated ears 10% Decreased lacrimation 10% Parietal foramina 10% Broad philtrum 10% Bifid nose 10% Conical tooth 10% Bifid nasal tip 10% Agenesis of cerebellar vermis 10% Calvarial skull defect 10% Coronal craniosynostosis 10% Scrotal hypoplasia 10% Microphthalmia 10% Abnormality of the toenails 10% Short palpebral fissure 10% Fine hair 10% Oligohydramnios 10% Underdeveloped nasal alae 10% Craniosynostosis 10% Telecanthus 10% Upslanted palpebral fissure 10% Brachycephaly 10% Hypoplasia of the corpus callosum 10% Intellectual disability, mild 10% Joint swelling 10% Obesity 10% Impotence 10% Abnormality of metabolism/homeostasis 10% Abnormality of the metaphysis 10% Delayed eruption of teeth 10% Everted lower lip vermilion 10% Protruding ear 10% High forehead 10% Glaucoma 10% Joint hyperflexibility 10% Umbilical hernia 10% Long philtrum 10% Myopia 10% Optic atrophy 10% Hypopigmented skin patches 10% Hearing impairment 10% Micrognathia 10% Decreased cervical spine mobility 10% Ectopic anterior pituitary gland 10% Anterior pituitary agenesis 10% Osteoporosis of vertebrae 10% Abnormality of secondary sexual hair 10% Abnormal prolactin level 10% Septo-optic dysplasia 10% Ectopic posterior pituitary 10% Abnormal form of the vertebral bodies 10% Abnormality of the palate 10% Pituitary dwarfism 10% Decreased skull ossification 10% Diabetic ketoacidosis 10% Early balding 10% Prominent scalp veins 10% Asymmetry of the thorax 10% Skin tags 10% Oligospermia 10% Tubulointerstitial fibrosis 10% Breast hypoplasia 10% Thick nasal alae 10% Atherosclerosis 10% Abnormality of the cerebral vasculature 10% Choanal atresia 10% Hypoplastic nipples 10% Keratoconus 10% Underdeveloped supraorbital ridges 10% Abnormality of the clavicle 10% Prematurely aged appearance 10% Hemangioma 10% Increased intracranial pressure 10% Abnormality of the thorax 10% Wide anterior fontanel 10% Hyperextensible skin 10% Abnormality of pelvic girdle bone morphology 10% Aplasia/Hypoplasia of the breasts 10% Anterior pituitary hypoplasia 10% Sleep apnea 10% Abnormality of reproductive system physiology 10% Dry skin 10% Hypothyroidism 10% Deeply set eye 10% Osteopenia 10% Constipation 10% Abnormality of cardiovascular system morphology 10% Malar flattening 10% Cleft palate 10% Sensorineural hearing impairment 10% Cortical diaphyseal thickening of the upper limbs 10% Broad jaw 10% Autism 10% Macrodactyly 10% Hypersomnia 10% Deep palmar crease 10% Deep plantar creases 10% Dysuria 10% Long penis 10% Abnormality of the endocrine system 10% Anterior hypopituitarism 10% Spinal canal stenosis 10% Broad foot 10% Delayed puberty 10% Hypoplasia of penis 10% Decreased circulating ACTH level 10% Diabetes insipidus 10% Median cleft lip and palate 10% Maternal diabetes 10% Absence of secondary sex characteristics 10% Pituitary hypothyroidism 10% Esophageal atresia 10% Severe postnatal growth retardation 10% Prolonged neonatal jaundice 10% Abnormality of the hypothalamus-pituitary axis 10% Absent septum pellucidum 10% Optic nerve hypoplasia 10% Polydactyly 10% Decreased testicular size 10% Tracheoesophageal fistula 10% Polydipsia 10% Anosmia 10% Holoprosencephaly 10% Infertility 10% Hemiplegia/hemiparesis 10% Aplasia/Hypoplasia of the cerebellum 10% Hypotension 10% Hypogonadotrophic hypogonadism 10% Severe global developmental delay 10% Sleep disturbance 10% Ptosis

Other symptoms that you may find interesting

Frontal bossing and Round face Diseases and genetic alterations