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. Browse more diseases related to these clinical features.

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

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High match FAMILIAL INFANTILE GIGANTISM

Related symptoms:

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


SOURCES: ORPHANET

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High match PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1

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 ).

PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1 Is also known as ;

Related symptoms:

  • Decreased cervical spine mobility
  • Ectopic anterior pituitary gland
  • Abnormality of digit
  • Anterior pituitary agenesis
  • Osteoporosis of vertebrae


SOURCES: ORPHANET OMIM

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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
  • Unerupted tooth
  • Dysmenorrhea
  • Asymmetry of the thorax


SOURCES: OMIM ORPHANET

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Medium match ACROMEGALY

Related symptoms:

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


SOURCES: ORPHANET

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Medium match INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES

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).

INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES Is also known as image syndrome;

Related symptoms:

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


SOURCES: ORPHANET OMIM

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Medium match 2P21 MICRODELETION SYNDROME

Related symptoms:

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


SOURCES: ORPHANET

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Medium match FRONTONASAL DYSPLASIA 2; FND2

FRONTONASAL DYSPLASIA 2; FND2 Is also known as ;

Related symptoms:

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


SOURCES: ORPHANET OMIM

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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: ORPHANET OMIM

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Medium match ROTHMUND-THOMSON SYNDROME TYPE 2

Related symptoms:

  • Concave nasal ridge
  • Osteosarcoma
  • Hypoplasia of teeth
  • Poikiloderma
  • Squamous cell carcinoma


SOURCES: ORPHANET

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

Symptoms // Phenotype % Cases
Depressed nasal bridge 60%
Hypogonadism 50%
Growth delay 50%
Mandibular prognathia 40%
Autosomal recessive inheritance 40%
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Other less frequent symptoms

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

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


Other signs and symptoms that you may find interesting

Frontal bossing and Round face Diseases and genetic alterations