Intrauterine growth retardation, and Vertigo

Diseases related with Intrauterine growth retardation and Vertigo

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


Top matches:

High match BILATERAL STRIOPALLIDODENTATE CALCINOSIS


Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Medium match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

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Other less relevant matches:

Low match PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME


Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015).

PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME Is also known as scar19|progressive autosomal recessive ataxia-sensorineural hearing loss syndrome|lichtenstein-knorr syndrome|spinocerebellar ataxia, autosomal recessive 19

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME

Low match CHARGE SYNDROME


CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE SYNDROME

Low match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Low match PROLACTINOMA


Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.

PROLACTINOMA Is also known as pituitary lactotrophic adenoma|prloma|prl-secreting pituitary adenoma|prolactin-secreting pituitary adenoma|lactotroph adenoma|prolactinoma, familial

Related symptoms:

  • Seizures
  • Neoplasm
  • Ptosis
  • Fatigue
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROLACTINOMA

Low match DIABETES INSIPIDUS, NEUROHYPOPHYSEAL


Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Low match TSH-SECRETING PITUITARY ADENOMA


A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.

TSH-SECRETING PITUITARY ADENOMA Is also known as thyrotroph adenoma|pituitary thyrotrophic adenoma|thyroid stimulating hormone-secreting pituitary adenoma|tsh-oma

Related symptoms:

  • Seizures
  • Ptosis
  • Hypertension
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about TSH-SECRETING PITUITARY ADENOMA

Low match XFE PROGEROID SYNDROME; XFEPS


XFE PROGEROID SYNDROME; XFEPS Is also known as xpf-ercc1 progeroid syndrome

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Neoplasm


SOURCES: MESH OMIM MENDELIAN

More info about XFE PROGEROID SYNDROME; XFEPS

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Headache Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm Ptosis Growth delay Global developmental delay Ataxia Vomiting Short stature Weight loss Hypogonadism Strabismus Cranial nerve paralysis Fever Ventriculomegaly Nystagmus Hypertelorism Scoliosis Pallor Delayed puberty Hypertension Hydrocephalus Abnormality of the skeletal system Blindness Failure to thrive Anemia Cryptorchidism Cleft palate Micrognathia Hypospadias Atrial septal defect Postnatal growth retardation Abnormal heart morphology Sensorineural hearing impairment Autism Hyperhidrosis Pneumonia Long philtrum Behavioral abnormality Optic atrophy Generalized hypotonia Clinodactyly of the 5th finger Decreased fertility in males Nausea and vomiting Osteopenia Hypotension Choanal atresia Hypogonadotrophic hypogonadism Severe short stature Abnormality of the urinary system Osteoporosis Thrombocytopenia Tremor Motor delay

Rare Symptoms - Less than 30% cases


Gynecomastia Abnormality of the liver Abnormality of vision Easy fatigability Impotence Growth hormone excess Short thumb Renal hypoplasia Growth hormone deficiency Diplopia Male hypogonadism Horseshoe kidney Adrenocorticotropic hormone deficiency Menstrual irregularities Hemianopia Oculomotor nerve palsy Abnormality of the menstrual cycle Progressive visual loss Sudden loss of visual acuity Facial asymmetry Anal atresia Astigmatism Female hypogonadism Adrenocorticotropin deficient adrenal insufficiency Central adrenal insufficiency Renal agenesis Decreased fertility in females Tetralogy of Fallot Decreased circulating ACTH level Decreased female libido Secondary growth hormone deficiency Aspiration Abnormality of the genital system Cardiomyopathy Tracheoesophageal fistula Paralysis Hypoplasia of the ulna Gait disturbance Retrognathia Gastroesophageal reflux Dysarthria Narrow mouth Anterior hypopituitarism Prominent forehead Hernia Conductive hearing impairment Feeding difficulties Syndactyly Depressed nasal bridge Dysphagia Ventricular septal defect Talipes equinovarus Anteverted nares Gait ataxia Proteinuria Toe syndactyly Delayed eruption of teeth Ectopic kidney Webbed neck Vesicoureteral reflux Absent radius Narrow face External ear malformation Lethargy Abnormality of the pinna Hepatomegaly Highly arched eyebrow Cleft upper lip Abnormal aortic valve morphology Pulmonic stenosis Prominent nasal bridge Hyperreflexia Bitemporal hemianopia Recurrent urinary tract infections Erectile abnormalities High palate Microphthalmia Renal insufficiency Congestive heart failure Gliosis Respiratory distress Photophobia Epicanthus Visual impairment Cataract Patent ductus arteriosus Abnormal facial shape Hip dislocation Cognitive impairment Pain Weak cry Dry skin Dysdiadochokinesis Muscular hypotonia Abnormality of cardiovascular system morphology Heteronymous hemianopia Dysmetria Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Abnormality of hair density Cranial nerve VI palsy Fourth cranial nerve palsy Umbilical hernia Mask-like facies Hypothyroidism Proptosis Hypertrophic cardiomyopathy Irritability Diabetes mellitus Abnormality of the eye Small for gestational age Torticollis Abnormality of the pituitary gland Internal ophthalmoplegia Areflexia Vestibular dysfunction External genital hypoplasia Progressive cerebellar ataxia Unsteady gait Aplasia/Hypoplasia of the cerebellum Bifid scrotum Anophthalmia Cupped ear Limb ataxia Obsessive-compulsive behavior Action tremor Cerebellar atrophy Broad palm Hypoplasia of the corpus callosum Double outlet right ventricle Bird-like facies Projectile vomiting Duplication of internal organs Malrotation of colon Down-sloping shoulders Left-to-right shunt Otitis media with effusion Reduced renal corticomedullary differentiation Overfolded helix Peripheral neuropathy Hypertropia Esophageal atresia Anal stenosis Abnormality of the umbilicus Hypoplastic radial head Dysplastic tricuspid valve Abnormality of immune system physiology Broad neck Mixed hearing impairment Chorioretinal coloboma Malar flattening Loss of ability to walk Iris coloboma Respiratory failure Micropenis Polyhydramnios Abnormality of the ribs Hydronephrosis Cleft lip Dandy-Walker malformation Facial palsy Omphalocele Low-set, posteriorly rotated ears Apnea Feeding difficulties in infancy Talipes Coloboma Pectus carinatum Microtia Small nail Renal dysplasia Hand polydactyly Holoprosencephaly Laryngomalacia Brachydactyly Reduced number of teeth Anosmia Abnormality of the outer ear Cutaneous syndactyly Plagiocephaly Short chin Visual loss Hemivertebrae Downslanted palpebral fissures Respiratory insufficiency Hypocalcemia Immunodeficiency Midface retrusion Lymphopenia Preauricular skin tag Infertility Abnormal palmar dermatoglyphics Hypoplasia of the zygomatic bone Prolactinoma Increased thyroid-stimulating hormone level Periodic hypokalemic paresis Euthyroid hyperthyroxinemia Enlarged pituitary gland Abnormal visual field test Thyroid crisis Intellectual disability, mild Deeply set eye Elevated hepatic transaminase Carious teeth Ascites Cutaneous photosensitivity Prolactin excess Hypoplasia of dental enamel Dyspareunia Pituitary prolactin cell adenoma Neoplasm of the skin Galactorrhea Pituitary hypothyroidism Neoplasm of the endocrine system Pituitary adenoma Cachexia Amenorrhea Prominent supraorbital ridges Supraventricular arrhythmia Increased circulating gonadotropin level Gastrointestinal dysmotility Dehydration Abnormality of the anterior pituitary Hypertonic dehydration Nocturia Pollakisuria Central diabetes insipidus Histiocytosis Enuresis Orthostatic hypotension Diabetes insipidus Polyuria Polydipsia Syncope Hyperthyroidism Coma Wide nose Confusion Autoimmunity Constipation Abnormality of metabolism/homeostasis Short nose Palpitations Ventricular arrhythmia Goiter Hypokalemia Pericardial effusion Hypoplastic male external genitalia Abnormality of mitochondrial metabolism Abnormal cranial nerve morphology Labial hypoplasia Narrow naris Arrhinencephaly Dimple chin Interrupted aortic arch Abnormality of female internal genitalia Microphallus Lacrimation abnormality Peripheral pulmonary artery stenosis Gonadotropin deficiency Aplasia/Hypoplasia of the earlobes Aqueductal stenosis Abnormality of tibia morphology Lop ear Hyposmia Tics Facial paralysis Prematurely aged appearance Poor coordination Retinal coloboma Duodenal atresia Eyelid coloboma Abnormally large globe Choanal stenosis Absence of subcutaneous fat Abnormality of the cervical spine Abnormality of the thymus Exercise intolerance Hypoplasia of the semicircular canal Abnormal autonomic nervous system physiology Anorexia Migraine Nausea High pitched voice Abdominal pain Diarrhea Myopathy Muscle weakness Posterior choanal atresia Parachute mitral valve Parathyroid hypoplasia Bilateral choanal atresia Abnormal soft palate morphology Bifid femur Hypoplasia of the cochlea Hand monodactyly Unilateral facial palsy Aplasia/Hypoplasia of the thymus Abnormality of the inner ear Square face Germinoma Abnormality of bone mineral density Abnormality of the adrenal glands Aortic arch aneurysm Esophageal stenosis Tapered finger Curly eyelashes Telangiectasia Hypopigmented skin patches Renal hypoplasia/aplasia Azoospermia Leukopenia Type I diabetes mellitus Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Insulin resistance Cafe-au-lait spot Aganglionic megacolon Hyperinsulinemia Short palpebral fissure Pancytopenia Oligohydramnios Sloping forehead Lymphoma Hypopigmentation of the skin Neutropenia Bruising susceptibility Abnormality of skin pigmentation Abnormality of the foot Dolichocephaly Finger syndactyly Reduced bone mineral density Myelodysplasia Abnormality of the kidney Abnormality of the ulna Abnormal renal morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormal eyelid morphology Triphalangeal thumb Chromosome breakage Hearing abnormality Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Hydroureter Squamous cell carcinoma Glucose intolerance Leukemia Carcinoma Abnormality of chromosome stability Parkinsonism Broad-based gait Choreoathetosis Progressive neurologic deterioration Psychosis Abnormality of extrapyramidal motor function Bradykinesia Cerebral calcification Neuronal loss in central nervous system Memory impairment Urinary incontinence Chorea Abnormal cerebellum morphology Muscle stiffness Postural instability Dyskinesia Abnormality of movement Neurological speech impairment Corneal opacity Abnormal pyramidal sign Mental deterioration Rigidity Dementia Encephalopathy Depressivity Dystonia Clumsiness Schizophrenia Pes planus Pseudohypoparathyroidism Upslanted palpebral fissure Frontal bossing Dense calcifications in the cerebellar dentate nucleus Calcification of the small brain vessels Pill-rolling tremor Progressive choreoathetosis Micrographia Focal motor seizures Limb dysmetria Subcutaneous hemorrhage Mood swings Alcoholism Orofacial dyskinesia Slurred speech Focal dystonia Calcinosis Abnormal lower motor neuron morphology Lewy bodies Frontotemporal dementia Progressive encephalopathy Bipolar affective disorder Basal ganglia calcification Abnormality of neuronal migration Athetosis Emotional lability Oral-pharyngeal dysphagia Abnormal localization of kidney Reticulocytopenia Absent hand Increased body weight Proximal placement of thumb Self-injurious behavior Pyloric stenosis Short metatarsal Deep philtrum Incoordination Hypoplasia of the radius Relative macrocephaly Widely spaced teeth Spontaneous abortion Elbow flexion contracture Low anterior hairline Tricuspid regurgitation Long eyelashes Hypertrichosis Low posterior hairline Blue sclerae High myopia Congenital diaphragmatic hernia Microdontia Otitis media Sepsis Triangular face Renal cyst Microcornea Clubbing Cutis marmorata Single transverse palmar crease Abnormality of the gastrointestinal tract Gastroparesis Supernumerary ribs Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Hypoplastic labia majora Short middle phalanx of finger Esophagitis Aspiration pneumonia Hiatus hernia Poor appetite Ectrodactyly Oligodactyly Hypoplastic nipples Dislocated radial head Abnormality of digit Limited elbow extension Opisthotonus 2-3 toe syndactyly Sleep disturbance Small hand Abnormal aortic morphology Compensated hypothyroidism Low-set ears Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Absent testis Wide nasal bridge Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Delayed speech and language development Myopia High, narrow palate Aggressive behavior Downturned corners of mouth Hirsutism Pulmonary hypoplasia Thick eyebrow Thin vermilion border Micromelia Synophrys Craniosynostosis Autistic behavior Respiratory tract infection Camptodactyly Telecanthus Hypoglycemia Macrocephaly Thin upper lip vermilion Mandibular prognathia Glaucoma Hyperactivity Brachycephaly Delayed skeletal maturation Inguinal hernia Clinodactyly Hypertonia Abnormality of the dentition Intellectual disability, severe Short neck Lack of subcutaneous fatty tissue



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