Failure to thrive, and Renal hypoplasia

Diseases related with Failure to thrive and Renal hypoplasia

In the following list you will find some of the most common rare diseases related to Failure to thrive and Renal hypoplasia that can help you solving undiagnosed cases.

Top matches:

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS

COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Other less relevant matches:

ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

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

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.

TOWNES-BROCKS SYNDROME Is also known as renal-ear-anal-radial syndrome|tbs|rear syndrome|townes syndrome|imperforate anus with hand, foot and ear anomalies|sensorineural deafness with imperforate anus and hypoplastic thumbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about TOWNES-BROCKS SYNDROME

Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES Is also known as microphthalmia and pituitary anomalies|microphthalmia with brain and digit developmental anomalies|syndromic microphthalmia type 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|bakrania-ragge

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Renal hypoplasia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Renal hypoplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microphthalmia Seizures Intellectual disability Muscular hypotonia Hypertension Agenesis of corpus callosum Hearing impairment Micrognathia Short stature Hypoplasia of the corpus callosum Hypospadias Growth delay Abnormality of cardiovascular system morphology Camptodactyly Acidosis Facial asymmetry Renal dysplasia Severe muscular hypotonia Inguinal hernia Blepharophimosis Abnormal facial shape Vesicoureteral reflux Flexion contracture Retrognathia Ventricular septal defect Atrial septal defect Patent ductus arteriosus Abnormal heart morphology Ventriculomegaly High palate Pulmonic stenosis Renal insufficiency Tetralogy of Fallot Abnormality of the kidney Hydronephrosis Hepatomegaly Feeding difficulties Intrauterine growth retardation Respiratory insufficiency Hydrocephalus

Rare Symptoms - Less than 30% cases

Frontal bossing Toe syndactyly Horseshoe kidney Iris coloboma Hypothyroidism Abnormality of the uterus Inferior vermis hypoplasia Myopathy Cleft palate Scoliosis Pigmentary retinopathy Cardiomyopathy Anteriorly placed anus Broad forehead Retinopathy Abnormal cardiac septum morphology Motor delay Coarctation of aorta Strabismus Anal atresia Pectus carinatum Brachycephaly Severe short stature Clinodactyly of the 5th finger Hernia Protruding ear Anemia Bifid uvula Pulmonary hypoplasia Abnormal vertebral morphology Rocker bottom foot Micropenis Posteriorly rotated ears Anophthalmia Wide mouth Cataract Cerebellar hypoplasia Jaundice Hypertelorism Hyperactivity Arthrogryposis multiplex congenita Preaxial hand polydactyly Overfolded helix Craniosynostosis Renal tubular acidosis Attention deficit hyperactivity disorder Short neck Bifid scrotum Increased serum lactate Renal cyst Lactic acidosis Narrow mouth Abnormality of the foot Polydactyly Chorioretinal coloboma Areflexia Respiratory failure Anteverted nares Cerebral cortical atrophy Absent speech Absent septum pellucidum Abnormality of the urinary system Aplasia/Hypoplasia of the corpus callosum Abnormality of the skeletal system Cognitive impairment Microtia Cranial nerve paralysis Midface retrusion Cupped ear Abnormality of vision Triphalangeal thumb Arnold-Chiari malformation Macrotia High forehead Coloboma Finger syndactyly Retinal dystrophy Postaxial polydactyly Preauricular skin tag Delayed puberty Ulnar deviation of finger Broad hallux phalanx Lower limb asymmetry Spina bifida Broad thumb Rectovaginal fistula Spina bifida occulta Abnormality of the ribs Abnormal vagina morphology Multiple renal cysts Toe clinodactyly Abnormal pulmonary valve morphology Partial duplication of thumb phalanx External ear malformation Hypoplasia of penis Crossed fused renal ectopia Malar flattening Absent toe Bifid uterus Urethral valve Abnormality of the tragus Rectoperineal fistula Aplasia/Hypoplasia of the 3rd toe Nystagmus Sensorineural hearing impairment Bowel incontinence Brachydactyly Myopia Ectopic kidney Blindness Subcutaneous nodule Epibulbar dermoid Lambdoidal craniosynostosis Single transverse palmar crease Wide anterior fontanel Congenital contracture Radioulnar synostosis Pyloric stenosis Renal hypoplasia/aplasia Multicystic kidney dysplasia Joint contracture of the hand Situs inversus totalis Abnormality of the face Hypoplasia of the brainstem Abnormal form of the vertebral bodies Short palpebral fissure Interphalangeal joint contracture of finger Peripheral demyelination Specific learning disability Dandy-Walker malformation Renal agenesis High, narrow palate Myotonia Mask-like facies Talipes Primitive reflex Fixed facial expression Aplasia/Hypoplasia involving the skeletal musculature Zollinger-Ellison syndrome Abnormality of the penis Abnormality of the cerebellar vermis Congenital ptosis Limb joint contracture Epispadias Abnormality of the upper urinary tract Metatarsus adductus Colpocephaly Distal arthrogryposis Restlessness Submucous cleft hard palate Abnormality of the sternum Decreased muscle mass Hydroureter Dextrocardia Arachnodactyly Muscular dystrophy Microcornea Adrenal hypoplasia Abnormality of the cervical spine Anterior pituitary hypoplasia Anterior hypopituitarism Abnormality of the hypothalamus-pituitary axis Delayed CNS myelination Sclerocornea Microglossia Postaxial foot polydactyly Orbital cyst Foot polydactyly Broad palm Short middle phalanx of finger Proximal placement of thumb Plagiocephaly Microretrognathia High myopia Nail dysplasia Female hypogonadism Uplifted earlobe Camptodactyly of finger Long philtrum Joint stiffness Respiratory tract infection Abnormality of the pinna Postnatal growth retardation Aggressive behavior Kyphoscoliosis Polyhydramnios Pectus excavatum Kyphosis Small scrotum Intellectual disability, severe Talipes equinovarus Skeletal muscle atrophy Epicanthus Ptosis Aplasia of the optic tract Small sella turcica Flexion contracture of thumb Pes planus Abnormal spleen morphology Constipation Scarring Hematuria Hepatic failure Cirrhosis Malabsorption Pruritus Stroke Abnormality of the liver Cyanosis Proteinuria Mandibular prognathia Splenomegaly Microvesicular hepatic steatosis Tongue fasciculations Breech presentation Triangular face Cholestasis Hypoventilation Pulmonary artery stenosis Axenfeld anomaly Dark urine Butterfly vertebrae Peripheral pulmonary artery stenosis Cholestatic liver disease Wolff-Parkinson-White syndrome Poor coordination Increased body weight Exocrine pancreatic insufficiency Posterior embryotoxon Long nose Heart murmur Rickets Pointed chin Increased CSF lactate Hyperkalemia Congestive heart failure Breast carcinoma Peters anomaly Chromosome breakage Acute leukemia Lipoma Acute myeloid leukemia Myelodysplasia Bone marrow hypocellularity Chromosomal breakage induced by crosslinking agents Cafe-au-lait spot Short thumb Esotropia Corneal opacity Leukemia Neoplasm Medulloblastoma T-cell acute lymphoblastic leukemias Hyponatremia Epileptic encephalopathy Failure to thrive in infancy Chronic kidney disease CNS hypomyelination Fasciculations Decreased liver function Pachygyria Delayed myelination Peripheral neuropathy Hepatic steatosis Lethargy Neonatal hypotonia Myoclonus Hyporeflexia Encephalopathy Cerebral atrophy Ataxia Hypertrophic cardiomyopathy Partial absence of the septum pellucidum Macrocephaly Upslanted palpebral fissure Prominent forehead Dilatation Short nose Hypertonia Downslanted palpebral fissures Agenesis of pulmonary vessels Thin vermilion border Hypoplastic left atrium Hypoplastic spleen Aplasia/Hypoplasia of the pancreas Mild intrauterine growth retardation Right aortic arch with mirror image branching Bilateral lung agenesis Thin upper lip vermilion Polymicrogyria Renal malrotation Narrow nose Craniofacial asymmetry Intraventricular hemorrhage Ureterocele Metopic synostosis Broad face Arachnoid cyst Arnold-Chiari type I malformation Urinary incontinence Syringomyelia Cutis marmorata Obsessive-compulsive behavior Sparse eyebrow Short chin Overgrowth Hip dysplasia Pulmonary artery hypoplasia Pelvic kidney Short philtrum Spontaneous abortion Respiratory distress Wide nasal bridge 3-Methylglutaconic aciduria Severe lactic acidosis Severe failure to thrive Hyperammonemia Cardiac arrest Congenital diaphragmatic hernia Aortic valve stenosis Cardiomegaly Oligohydramnios Aciduria Metabolic acidosis Prominent nasal bridge Intestinal malrotation Bilateral sensorineural hearing impairment Single ventricle Bicornuate uterus Overriding aorta Annular pancreas Abnormality of the diaphragm Duodenal stenosis Diaphragmatic eventration Bilateral microphthalmos Pulmonary artery atresia Intellectual disability, profound Truncus arteriosus Hiatus hernia Hypoplasia of the uterus Optic nerve hypoplasia Abnormality of the genitourinary system Abnormality of the genital system Abnormal lung morphology Abnormal anatomic location of the heart


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Toe syndactyly, related diseases and genetic alterations Arthritis and Hypodontia, related diseases and genetic alterations Melanoma and Photophobia, related diseases and genetic alterations Cleft palate and Sloping forehead, related diseases and genetic alterations