Intrauterine growth retardation, and Amenorrhea

Diseases related with Intrauterine growth retardation and Amenorrhea

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

Top matches:

Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Other less relevant matches:

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

Medium match MYHRE SYNDROME

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Amenorrhea

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Amenorrhea. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Primary amenorrhea

Uncommon Symptoms - Between 30% and 50% cases

Cataract Motor delay Cryptorchidism Neoplasm Ataxia Failure to thrive Nystagmus Hypoglycemia Hypogonadism Kyphosis Ventriculomegaly Depressed nasal bridge Short neck Hypospadias Recurrent respiratory infections Cleft palate Delayed skeletal maturation Intellectual disability, severe Severe short stature Obesity Hearing impairment Clinodactyly Micropenis Flexion contracture Hypertension Generalized hypotonia Postnatal growth retardation Short nose Autism Respiratory distress Upslanted palpebral fissure Leukemia Feeding difficulties in infancy Small for gestational age Small hand Sensorineural hearing impairment External genital hypoplasia Diarrhea Hyperactivity Respiratory failure Attention deficit hyperactivity disorder Cutaneous photosensitivity Choanal atresia Hypermetropia Delayed puberty Scoliosis Truncal obesity Fever Cognitive impairment Muscle weakness Hip dysplasia

Rare Symptoms - Less than 30% cases

Abnormality of cardiovascular system morphology Abnormality of the skeletal system Respiratory insufficiency Oligomenorrhea Radial deviation of finger Skeletal muscle hypertrophy Recurrent infections Anorexia Triangular mouth Rhabdomyosarcoma Syndactyly Tremor Acute leukemia Talipes equinovarus Renal insufficiency Acute lymphoblastic leukemia Combined immunodeficiency Muscular hypotonia Ptosis High palate Thickened calvaria Myopia Ventricular septal defect Behavioral abnormality Hypertonia Oligohydramnios Prominent forehead Peripheral neuropathy Thrombocytopenia Knee flexion contracture Abnormality of the pinna Sparse hair Short palm Respiratory tract infection Limitation of joint mobility Low anterior hairline Lymphopenia Specific learning disability Abnormality of the cardiovascular system Deeply set eye Thin upper lip vermilion Chronic diarrhea Abnormal lung morphology Pneumonia Mandibular prognathia Thickened skin Growth hormone deficiency Short toe Aortic valve stenosis Narrow mouth Narrow palpebral fissure Short long bone Prominent nasal bridge Precocious puberty Abnormality of the nervous system Macrotia Carious teeth Hypoplastic iliac wing Generalized myoclonic seizures Abnormality of the dentition Sleep disturbance Joint stiffness Severe global developmental delay Osteopenia Intellectual disability, mild Severe postnatal growth retardation Hepatomegaly Large hands Thin vermilion border Thick eyebrow Downturned corners of mouth Short foot Poor suck Hypogonadotrophic hypogonadism Brachydactyly Delayed eruption of teeth Long eyelashes Increased body weight Peripheral demyelination Edema Splenomegaly Microcornea Polyneuropathy Vomiting Arrhythmia Congestive heart failure Hypoplasia of penis Malar prominence Spasticity Osteoporosis Dementia Apnea Cerebral atrophy Immunodeficiency Malar flattening Long philtrum Microphthalmia Hydrocephalus Prominent nose Anteverted nares Gastroesophageal reflux Epicanthus Midface retrusion Low-set ears Brachycephaly High forehead Cerebral cortical atrophy Cough Microtia Hypertelorism Decreased fetal movement Conductive hearing impairment High pitched voice Keratitis Delayed menarche Prematurely aged appearance Reduced number of teeth Aplasia/Hypoplasia involving the nose Encephalopathy Hypoplastic nasal bridge Proportionate short stature Dystonia Dysphagia Myoclonus Immune dysregulation Fatigue Dyspnea Abdominal pain Anemia Underdeveloped supraorbital ridges Abnormality of the elbow Concave nasal ridge Lymphoid interstitial pneumonia Hypercholesterolemia Ocular albinism Hypohidrosis Nasal speech Pulmonary embolism Striae distensae Impaired pain sensation Myeloid leukemia Narrow nasal bridge Polyphagia Decreased muscle mass Adrenal insufficiency Albinism Glucose intolerance Inflammation of the large intestine Emotional lability Hyperinsulinemia Failure to thrive in infancy Infantile muscular hypotonia Hypoventilation Scrotal hypoplasia Sleep apnea Bicuspid aortic valve Spontaneous abortion Bradycardia Insulin resistance Clumsiness Psychosis Type II diabetes mellitus Narrow forehead Febrile seizures Esotropia Gastrointestinal hemorrhage Full cheeks Hypopigmentation of hair Iris hypopigmentation Osteoarthritis Disseminated intravascular coagulation Depressed nasal ridge Blue sclerae Eczema Microdontia Progressive visual loss Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Erysipelas Abnormality of lipid metabolism Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Umbilical hernia Chromosome breakage Hypoplasia of the fovea Acrocyanosis Overweight Central hypotonia Polyhydramnios Purpura Jaundice Hematological neoplasm Giant cell hepatitis Laryngeal stridor Orthopnea CSF pleocytosis Erlenmeyer flask deformity of the femurs Decreased beta-glucocerebrosidase protein and activity Abnormal platelet aggregation Spontaneous hematomas Cardiac valve calcification Slowed horizontal saccades EEG with temporal sharp waves Dysarthria Optic atrophy Gait disturbance Intestinal bleeding Subcutaneous hemorrhage Retinopathy Avascular necrosis of the capital femoral epiphysis Supranuclear gaze palsy Congenital nonbullous ichthyosiform erythroderma Multiple myeloma Abnormality of the larynx Hypoxemia Abnormality of the spleen Restrictive deficit on pulmonary function testing Abducens palsy Generalized osteosclerosis Histiocytosis Abnormal pattern of respiration Eclabion Hemophagocytosis Axial dystonia Proteinuria Dry skin Slow saccadic eye movements Normal pressure hydrocephalus Abnormal auditory evoked potentials Delayed eruption of primary teeth Retinal pigment epithelial mottling Chorioretinitis Decreased lacrimation Loss of facial adipose tissue Severe photosensitivity Hypoplasia of teeth Increased cellular sensitivity to UV light Slender nose Square pelvis bone Peripheral dysmyelination Ivory epiphyses of the phalanges of the hand Patchy demyelination of subcortical white matter CNS demyelination Menstrual irregularities Abnormality of skin pigmentation Neoplasm of the skin Dental malocclusion Pigmentary retinopathy Cerebral calcification Leukodystrophy Opacification of the corneal stroma Atherosclerosis Decreased nerve conduction velocity Dry hair Anhidrosis Reduced subcutaneous adipose tissue Basal ganglia calcification Abnormality of visual evoked potentials Atypical scarring of skin Progeroid facial appearance Hypoplastic pelvis Nonimmune hydrops fetalis Trismus Hepatosplenomegaly Cholestasis Abnormality of the skin Cyanosis Pancytopenia Epistaxis Pulmonary arterial hypertension Progressive neurologic deterioration Decreased body weight Syncope Hydrops fetalis Progressive microcephaly Bone pain Aspiration Cardiac arrest Elbow flexion contracture Brain atrophy Abnormal bleeding Hyperbilirubinemia Lethargy Rigidity Elevated hepatic transaminase Developmental regression Irritability Pallor Corneal opacity Ophthalmoplegia Ascites Abnormality of eye movement Lymphadenopathy Nausea Cirrhosis Hepatic failure Pulmonary hypoplasia Hypocalcemia Osteolysis Bulbar signs Protuberant abdomen Hypokinesia Exertional dyspnea Bulbar palsy Congenital ichthyosiform erythroderma Poor eye contact Atrophy/Degeneration affecting the brainstem Limb hypertonia Petechiae Epileptic spasms Hepatocellular carcinoma Increased serum ferritin Aspiration pneumonia Fetal akinesia sequence Hypomagnesemia Interstitial pulmonary abnormality Abnormality of coagulation Hypopigmentation of the skin Portal hypertension Oculomotor apraxia Leukopenia Hyperammonemia Cholelithiasis Intracranial hemorrhage Bilateral ptosis Abnormality of the thorax Opisthotonus Ectropion Hyponatremia Clubbing Akinesia Heart murmur Athetosis Menorrhagia Sepsis Abnormality of epiphysis morphology Tapered finger Lymphoma Cachexia Recurrent pneumonia Abnormality of the hair Sinusitis Cafe-au-lait spot Telangiectasia Bronchiectasis Recurrent urinary tract infections Abnormality of the face Sloping forehead Convex nasal ridge Otitis media Neurodegeneration Premature ovarian insufficiency Hemolytic anemia Cleft upper lip Anal atresia Mental deterioration Intellectual disability, moderate Hydronephrosis Retrognathia Skeletal muscle atrophy Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Short sternum Deep philtrum Abnormality of neuronal migration Multiple renal cysts Abnormal hair quantity Pectus excavatum Atrial septal defect Progressive vitiligo Mastoiditis Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Glioma Non-midline cleft lip Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Hearing abnormality Anal stenosis Neuroblastoma Autoimmune hemolytic anemia Abnormality of the musculature Freckling Long nose Mild microcephaly Severe intrauterine growth retardation Glaucoma Congenital cataract Decreased motor nerve conduction velocity Postural tremor CNS hypomyelination Hypergonadotropic hypogonadism Split hand Intention tremor Interphalangeal joint contracture of finger Decreased testicular size Chorea Sensory neuropathy Paresthesia Dysmetria Abnormal pyramidal sign Secondary amenorrhea Camptodactyly of finger Myalgia Proximal muscle weakness Kyphoscoliosis Pes cavus Babinski sign Lumbar scoliosis Abnormality of the carpal bones Madelung deformity Central hypothyroidism Hypoplasia of the uterus Hypotelorism Hypothyroidism Axonal degeneration Rhabdomyolysis Bifid scrotum Agenesis of corpus callosum Nephroblastoma Limb-girdle muscular dystrophy Myelodysplasia Sarcoma Hyperpigmentation of the skin Intellectual disability, profound Ambiguous genitalia Dandy-Walker malformation Renal cyst Wide nose Generalized tonic-clonic seizures Muscular dystrophy Posteriorly rotated ears Cerebellar hypoplasia Axonal loss Wide nasal bridge Peripheral hypomyelination Acute rhabdomyolysis Upper limb postural tremor Recurrent myoglobinuria Abnormality of the cervical spine Motor polyneuropathy Abnormality of peripheral nerve conduction Decreased serum estradiol Motor axonal neuropathy Genu recurvatum Malignant hyperthermia Myoglobinuria Clinodactyly of the 5th finger Anxiety Polymicrogyria Pericarditis Epispadias Femoral hernia Peptic ulcer Constrictive median neuropathy Craniofacial hyperostosis Restrictive cardiomyopathy Broad ribs Tracheal stenosis Chronic constipation Irregular vertebral endplates Submucous cleft hard palate Wheezing Arthropathy Unilateral cleft lip Keratoconus Abnormal joint morphology High hypermetropia Vertebral fusion Short finger Pericardial effusion Blurred vision 2-3 toe syndactyly Overlapping toe Oral-pharyngeal dysphagia Stridor Cone-shaped epiphysis Abnormality of the voice Abnormality of the menstrual cycle Abnormal lip morphology Abnormality of the metaphysis Delayed speech and language development Arachnodactyly Infertility Genu valgum Pruritus Dolichocephaly Stroke Neonatal hypotonia Photophobia Weight loss Diabetes mellitus Hyporeflexia Dilatation Myopathy Feeding difficulties Abnormality of the penis Pain Hypoplasia of eyelid Gingival cleft Enlarged vertebral pedicles Laryngotracheal stenosis Generalized muscle hypertrophy Abnormality of the pubic bone Constrictive pericarditis Pear-shaped nose Large iliac wings Esophageal stenosis Pseudopapilledema Stiff skin EMG abnormality Short palpebral fissure Low-set, posteriorly rotated ears Multicystic kidney dysplasia Blepharitis Oligodactyly Hypoplastic nipples Cutis marmorata Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Proximal placement of thumb Elbow dislocation Radioulnar synostosis Pyloric stenosis Atresia of the external auditory canal Widely spaced teeth Generalized hirsutism Abnormality of the ulna Bilateral single transverse palmar creases Low posterior hairline Congenital diaphragmatic hernia Intestinal malrotation Premature birth Vesicoureteral reflux Highly arched eyebrow Micromelia Talipes Synophrys Toe syndactyly Hip dislocation Neurological speech impairment Hypoplastic labia majora Short 1st metacarpal Fine hair Camptodactyly Abnormality of the ribs Coarctation of aorta Bifid uvula Progressive cerebellar ataxia Hypoplasia of the maxilla Oral cleft Astigmatism Platyspondyly Short philtrum Abnormal cardiac septum morphology Scarring Blepharophimosis Autistic behavior Cleft lip Abnormality of the uterus Constipation Inguinal hernia Abnormal heart morphology Patent ductus arteriosus Cerebellar atrophy Cardiomyopathy Macrocephaly Abnormally low-pitched voice Prenatal movement abnormality Phthisis bulbi Curly eyelashes Increased nuchal translucency Volvulus Thymic hormone decreased


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