Intrauterine growth retardation, and Hydronephrosis

Diseases related with Intrauterine growth retardation and Hydronephrosis

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

Top matches:

GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

High match IMAGE SYNDROME

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

Other less relevant matches:

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Macrocephaly


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

High match CHILD SYNDROME

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.

CHILD SYNDROME Is also known as child syndrome|child nevus|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|congenital hemidysplasia with ichthyosiform nevus and limbs defects

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHILD SYNDROME

High match MICRO SYNDROME

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.

SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME Is also known as star syndrome|syndactyly with renal and anogenital malformations

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Is also known as complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMPLEX LETHAL OSTEOCHONDRODYSPLASIA

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

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge Hearing impairment Global developmental delay Intellectual disability Cleft palate Short stature Flexion contracture Pulmonary hypoplasia Micropenis Microphthalmia Generalized hypotonia Hypospadias Brachycephaly Coarctation of aorta Small for gestational age Depressed nasal bridge Cryptorchidism Muscular hypotonia Short nose Scoliosis Failure to thrive Seizures Microcephaly

Rare Symptoms - Less than 30% cases

Single ventricle Short neck Hydrocephalus Anal atresia Renal hypoplasia Hypoplasia of the radius Rectovaginal fistula Mild intrauterine growth retardation Atrial septal defect Patent ductus arteriosus Abnormality of the kidney Short philtrum Short ribs Horseshoe kidney Clitoral hypertrophy Pelvic kidney Renal agenesis Polyhydramnios Cleft lip Abnormality of the pinna Abnormal cardiac septum morphology Anteverted nares Abnormality of cardiovascular system morphology Bicornuate uterus Telecanthus Anemia Vesicoureteral reflux Hypoplasia of the corpus callosum Hydrops fetalis Hypertelorism Abnormality of the genital system Decreased liver function Craniosynostosis Joint laxity Postnatal growth retardation Hypogonadism Prominent forehead Bilateral sensorineural hearing impairment Full cheeks Macrocephaly Adrenal hypoplasia Spasticity Sensorineural hearing impairment Multiple prenatal fractures Unilateral cleft lip Upper limb spasticity Renal insufficiency Abnormal localization of kidney Retinal coloboma Clitoral hypoplasia Hypoplastic labia minora Frontoparietal polymicrogyria Myopia Abnormality of the skeletal system Toe syndactyly Syndactyly Clinodactyly of the 5th finger Thin upper lip vermilion Abnormality of visual evoked potentials Talipes Bulbous nose Wide nose Retinal dystrophy Single transverse palmar crease Broad nasal tip Short femur Spina bifida Decreased skull ossification Spina bifida occulta Aortic regurgitation Severe postnatal growth retardation Spastic diplegia Cerebellar vermis atrophy Congenital cataract Abnormal cerebellum morphology Microcornea Hirsutism Fractured radius Polymicrogyria Delayed puberty Joint stiffness Decreased testicular size Low-set, posteriorly rotated ears Muscular hypotonia of the trunk Deeply set eye Macrotia Narrow mouth Cerebral cortical atrophy Tetraplegia Hypoplasia of penis Large fleshy ears Multiple rib fractures Cortical dysplasia Decreased muscle mass Ectopic kidney Scrotal hypoplasia Beaded ribs Aplasia/Hypoplasia of the corpus callosum Lissencephaly Spastic tetraplegia Generalized hirsutism Low anterior hairline Cerebral visual impairment Abnormality of retinal pigmentation Postnatal microcephaly Pachygyria Cerebellar vermis hypoplasia Bicuspid aortic valve Pulmonary artery stenosis Macular dystrophy Bilateral microphthalmos Annular pancreas Abnormality of the diaphragm Webbed neck Limb undergrowth Duodenal stenosis Diaphragmatic eventration Cardiomegaly Renal malrotation Abnormality of the uterus Wormian bones Pulmonary artery atresia Truncus arteriosus Hiatus hernia Hypoplasia of the uterus Overriding aorta Ascites Anophthalmia Platyspondyly Cerebellar hypoplasia Posteriorly rotated ears Osteopenia Hypertrophic cardiomyopathy Ventriculomegaly Agenesis of pulmonary vessels Flat face Pulmonary artery hypoplasia Abnormal spleen morphology Hypoplastic left atrium Recurrent fractures Hypoplastic spleen Aplasia/Hypoplasia of the pancreas Right aortic arch with mirror image branching Bilateral lung agenesis Rocker bottom foot Optic nerve hypoplasia Anal stenosis Duane anomaly Respiratory insufficiency Mitral atresia 4-5 toe syndactyly Flared metaphysis Lop ear Thoracic hypoplasia Single umbilical artery Hernia Peripheral pulmonary artery stenosis Labial hypoplasia Eyelid coloboma Cardiomyopathy Narrow nose Syringomyelia Respiratory distress Abnormal heart morphology Abnormality of the genitourinary system Intestinal malrotation Disproportionate short-limb short stature Abnormal lung morphology Intellectual disability, profound Congenital diaphragmatic hernia Tetralogy of Fallot Adducted thumb Pulmonic stenosis Inguinal hernia Pectus carinatum Blepharophimosis Protruding ear Pleural effusion Camptodactyly Respiratory failure Severe short stature Glaucoma Abnormality of the nail Kyphosis Wide mouth Asthma Abnormal bleeding Triangular face Thin vermilion border Cirrhosis Synophrys Hepatosplenomegaly Pancytopenia Thrombocytopenia Splenomegaly Edema Hepatomegaly Hypoplastic sacrum Forearm undergrowth Oligohydramnios Telangiectasia Depressed nasal tip Biventricular hypertrophy Abnormality of glutamine metabolism Increased serum bile acid concentration Abnormality of the clitoris Infra-orbital crease Functional respiratory abnormality Micronodular cirrhosis Premature skin wrinkling Hepatic fibrosis Dextrocardia Patent foramen ovale Poor suck Deep philtrum Cutis laxa Situs inversus totalis Wide anterior fontanel Abnormality of chromosome stability Chromosome breakage Agenesis of corpus callosum Hyperextensible skin Growth hormone deficiency Micromelia Muscular dystrophy Respiratory tract infection Delayed skeletal maturation Frontal bossing CNS hypomyelination Nephrocalcinosis Cholestasis Round face Hepatic steatosis Hepatic failure Abnormality of the liver Elevated hepatic transaminase Hypocalcemia Short long bone Esophageal atresia Neoplasm Absent thumb Tracheoesophageal fistula Bone marrow hypocellularity Cafe-au-lait spot Leukemia Microtia Congenital adrenal hypoplasia Hypercalciuria Metaphyseal cupping Primary adrenal insufficiency Metaphyseal dysplasia Adrenal insufficiency Bilateral cryptorchidism Epiphyseal dysplasia Hypercalcemia Talipes equinovarus Polydactyly Cerebellar atrophy Congenital hip dislocation Parakeratosis Epiphyseal stippling Short clavicles Congenital ichthyosiform erythroderma Erythroderma Renal hypoplasia/aplasia Cyanosis Myelomeningocele Nevus Ichthyosis Cleft upper lip Hypotrichosis Erythema Umbilical hernia Meningocele Hypoplastic scapulae Alopecia Cataract Intellectual disability, severe Optic atrophy Peripheral neuropathy Visual impairment High palate Ptosis Elevated 8(9)-cholestenol Hypoplastic pelvis Elevated 8-dehydrocholesterol Parachute mitral valve Aplasia/Hypoplasia involving the central nervous system Aplasia/hypoplasia of the extremities Thyroid hypoplasia Vertebral hypoplasia Subvalvular aortic stenosis Hyperkeratosis Intellectual disability, mild Oral cleft Holoprosencephaly Median cleft lip Abnormal lung lobation Anencephaly Absent septum pellucidum Preaxial hand polydactyly Preaxial polydactyly Heterotopia Broad neck Encephalocele Omphalocele Postaxial hand polydactyly Dandy-Walker malformation Premature birth Postaxial polydactyly Upper limb undergrowth Bilateral cleft lip Proximal tibial hypoplasia Severe hydrocephalus Cleft in skull base Adrenal gland dysgenesis Agenesis of the diaphragm Bifid uterus Duplication of phalanx of hallux Laryngeal hypoplasia Accessory spleen Bilateral cleft lip and palate Arrhinencephaly Abnormal vagina morphology Bifid nose Complete atrioventricular canal defect Preaxial foot polydactyly Abnormal cortical gyration Tracheal stenosis Decreased fibular diameter


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