Intrauterine growth retardation, and Hepatic fibrosis

Diseases related with Intrauterine growth retardation and Hepatic fibrosis

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

Top 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

A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

Other less relevant matches:

Medium match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

Medium match SYNDROMIC DIARRHEA

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Hepatic fibrosis

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cirrhosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Short stature Microcephaly Splenomegaly Renal cyst Failure to thrive Polydactyly Hepatic failure Hearing impairment Pulmonary hypoplasia Oligohydramnios Depressed nasal bridge Patent ductus arteriosus Wide mouth Cholestasis Abnormality of the kidney Intellectual disability Diabetes mellitus Proptosis Pancreatic cysts Cystic renal dysplasia Talipes Polycystic kidney dysplasia Micrognathia Cleft lip Short neck Epicanthus Bile duct proliferation Hernia Abnormality of the liver Cleft palate Jaundice Intestinal malrotation Lobulated tongue Small for gestational age Recurrent respiratory infections Postaxial polydactyly Pancytopenia Renal dysplasia Dandy-Walker malformation Thrombocytopenia Edema Atrial septal defect Ventricular septal defect Anemia

Rare Symptoms - Less than 30% cases

Elevated hepatic transaminase Cerebral atrophy Feeding difficulties Pancreatic dysplasia Retrognathia Severe short stature Ataxia Severe failure to thrive Hypermelanotic macule Nail dysplasia Cryptorchidism Cognitive impairment Wide nasal bridge High, narrow palate Dysphagia Inguinal hernia Hyperkeratosis Aciduria Syndactyly Frontal bossing Posteriorly rotated ears Natal tooth Anencephaly Foot polydactyly Single umbilical artery Accessory spleen Brachydactyly Talipes equinovarus Oral cleft Preaxial polydactyly Limb undergrowth Ambiguous genitalia Short ribs Short finger Median cleft lip Hamartoma of tongue Specific learning disability Occipital encephalocele Bowing of the long bones Immunodeficiency Hydrocephalus Osteoporosis Polyhydramnios Sparse hair Wide nose Bifid uvula Depressed nasal ridge Large placenta Clinodactyly Encephalocele Cerebellar hypoplasia Agenesis of corpus callosum Anal atresia Cleft upper lip Renal agenesis Postaxial hand polydactyly Omphalocele Portal fibrosis Abnormality of the pinna Micronodular cirrhosis Long philtrum Decreased liver function Umbilical hernia Hydronephrosis Wide anterior fontanel Enlarged kidney Situs inversus totalis Coarctation of aorta Cutis laxa Hepatitis Respiratory insufficiency Pneumonia Abnormal heart morphology Acidosis Recurrent infections Respiratory failure Sepsis Choanal atresia Patent foramen ovale Clitoral hypertrophy Asplenia Short philtrum Spontaneous abortion Metaphyseal irregularity Protuberant abdomen Thin vermilion border Hypoplastic nipples Broad palm Synophrys Anophthalmia Bilateral single transverse palmar creases Bowing of the legs Disproportionate short-limb short stature Milia Broad foot Short thorax Short long bone Holoprosencephaly Horizontal ribs Microglossia Short nose Abnormality of eye movement Toe syndactyly Finger syndactyly Camptodactyly of finger Conductive hearing impairment Skeletal dysplasia Cerebral cortical atrophy Pectus excavatum Abnormality of cardiovascular system morphology High palate Hypoplastic scapulae Absent internal genitalia Intrahepatic bile duct cysts Bowing of the arm Fetal ascites Periportal fibrosis Median cleft lip and palate Atelectasis Bifid tongue Preaxial foot polydactyly Thoracic dysplasia Short toe Flat face Renal hypoplasia Deep philtrum Hydrops fetalis Cerebellar dysplasia Ambiguous genitalia, male Abnormality of the larynx Abnormality of the uterus Breech presentation Meningocele Adrenal hypoplasia Abnormality of the ureter Poor suck Elevated alpha-fetoprotein External genital hypoplasia Hydroureter Radial deviation of finger Arnold-Chiari malformation Multicystic kidney dysplasia Spina bifida Abnormality of the genital system Dextrocardia Premature skin wrinkling Ambiguous genitalia, female Meningoencephalocele Triangular face High forehead Abnormal bleeding Wide intermamillary distance Ascites Single transverse palmar crease Short foot Short palm Decreased testicular size Asthma Narrow chest Respiratory distress Urethral atresia Telangiectasia Macrocephaly Craniorachischisis Occipital meningocele Olfactory lobe agenesis Elevated amniotic fluid alpha-fetoprotein Hypoplasia of the bladder Urethral obstruction Cerebral hypoplasia Neural tube defect Micromelia Biliary cirrhosis Hepatosplenomegaly Premature graying of hair Blepharitis Abnormal eyelash morphology Premature loss of teeth Aseptic necrosis Telangiectasia of the skin Aplasia/Hypoplasia of the skin Skin vesicle Macule Neurofibromas Abnormality of coagulation Pulmonary fibrosis Abnormal eyebrow morphology Epiphora Tracheoesophageal fistula Myelodysplasia Dermal atrophy Hypopigmented skin patches Neoplasm of the skin Abnormal intestine morphology Abnormality of the fingernails Bone marrow hypocellularity Lymphopenia Skin ulcer Neoplasm of the pancreas Taurodontia Cerebral calcification Interstitial pneumonitis Esophageal stenosis Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Nail pits Rough bone trabeculation Porokeratosis Aplastic/hypoplastic toenail Abnormality of neutrophils Periodontitis Urethral stenosis Squamous cell carcinoma of the skin Abnormality of the pharynx Testicular atrophy Cellular immunodeficiency Abnormality of female internal genitalia Ridged nail Aplastic anemia Oral leukoplakia Abnormality of the testis White hair Hyperpigmentation of the skin Abnormal blistering of the skin Interphalangeal joint contracture of finger Hamartoma Abnormality of the gingiva Accessory oral frenulum Abnormal oral mucosa morphology Subcortical cerebral atrophy Porencephalic cyst Abnormality of the tongue Rectovaginal fistula Short tibia Primary adrenal insufficiency Submucous cleft hard palate Abnormal joint morphology Tongue nodules Abnormality of the ear Mesomelia Hypoplastic toenails Preaxial hand polydactyly Hand polydactyly Genu varum Laryngomalacia Renal hypoplasia/aplasia Abnormality of the outer ear Biventricular hypertrophy Split hand Abnormal oral frenulum morphology Aplasia/Hypoplasia of the tibia Lymphoma Abnormality of the dentition Hypoplasia of the maxilla Hypodontia Recurrent fractures Palmoplantar keratoderma Abnormality of skin pigmentation Malabsorption Carious teeth Nail dystrophy Leukemia Hyperhidrosis Alopecia Cataract Perineal fistula Neoplasm Scoliosis Absent crus of helix Monorchism Microtia, third degree Oral synechia Aplasia/Hypoplasia of the mandible Bilateral lung agenesis Rectal atresia Absent testis Cerebral cortical hemiatrophy Joint dislocation Increased serum bile acid concentration Hypotelorism Elfin facies Motor delay Spasticity Muscular hypotonia Hiatus hernia Thoracolumbar scoliosis Generalized hypotonia Seizures Asymmetry of the breasts Prominent nipples Adipose tissue loss Postprandial hyperglycemia Fever Female pseudohermaphroditism Absence of subcutaneous fat Pancreatic islet-cell hyperplasia Abnormality of the abdominal wall Thick nasal alae Long penis Fasting hypoglycemia Ovarian cyst Small face Concave nasal ridge Peripheral neuropathy Optic atrophy Esophageal varix Rigidity Coma Neurodegeneration Lactic acidosis Peripheral axonal neuropathy Abnormality of movement Generalized tonic-clonic seizures Paralysis Developmental regression Abnormality of the eye Portal hypertension Congenital glaucoma Blindness Hyperactivity Myoclonus Dementia Areflexia Visual loss Encephalopathy Congenital hypothyroidism Hypertonia Cerebellar atrophy Vomiting Long foot Thickened nuchal skin fold Brain atrophy Polymicrogyria Feeding difficulties in infancy Low-set, posteriorly rotated ears Hypoglycemia Macrotia Splenic cyst Flexion contracture Renal insufficiency Delayed skeletal maturation Skeletal muscle atrophy Stage 5 chronic kidney disease Aortic valve stenosis Hirsutism Type I diabetes mellitus Preauricular pit Ureteral atresia Multiple glomerular cysts Glutaric acidemia Pancreatic fibrosis Potter facies Polysplenia Hepatic cysts Short sternum Postnatal growth retardation Thick vermilion border Hearing abnormality Cachexia Severe intrauterine growth retardation Lipoatrophy Reduced subcutaneous adipose tissue Buphthalmos Decreased muscle mass Glucose intolerance Hyperglycemia Large hands Precocious puberty Hyperinsulinemia Acanthosis nigricans Pancreatic hypoplasia Generalized hirsutism Gynecomastia Insulin resistance Gingival overgrowth Hypertrichosis Thick lower lip vermilion Epidermal acanthosis Type II diabetes mellitus Sagittal craniosynostosis Abdominal distention Gliosis Increased serum lactate Sloping forehead Abnormality of the immune system Peripheral pulmonary artery stenosis Abnormal thrombocyte morphology Abnormality of the pancreas Villous atrophy Large forehead Woolly hair Thrombocytosis Underdeveloped supraorbital ridges Iron deficiency anemia Curly hair Brittle hair Increased mean platelet volume Hypoalbuminemia Recurrent upper respiratory tract infections Leukopenia Aortic regurgitation Abnormality of the hair Chronic diarrhea Fine hair Tetralogy of Fallot Premature birth Hypothyroidism Trichorrhexis nodosa Intermittent diarrhea Dry skin Dilatation Functional respiratory abnormality Webbed neck Iris coloboma Infra-orbital crease Abnormality of the clitoris Abnormal cardiac septum morphology Abnormality of glutamine metabolism Sensorineural hearing impairment Hypertension Abnormality of the skeletal system Microphthalmia Intractable diarrhea Abnormalities of placenta or umbilical cord Glaucoma Abnormality of iron homeostasis Galactosuria Humoral immunodeficiency Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Secretory diarrhea Osteopenia Delayed puberty Focal-onset seizure Spastic paraparesis Progressive encephalopathy Abnormality of visual evoked potentials Celiac disease Progressive spasticity Spastic diplegia Akinesia Encephalitis Slurred speech Abnormality of vision Intellectual disability, progressive Paraparesis Fetal akinesia sequence Cerebral visual impairment Clumsiness Choreoathetosis Progressive neurologic deterioration Hemiparesis Status epilepticus Generalized-onset seizure Neuronal loss in central nervous system Epileptic encephalopathy Memory impairment Increased CSF protein Tics Pulmonic stenosis Downslanted palpebral fissures Broad forehead Microtia Respiratory tract infection Thin upper lip vermilion Hyperlordosis Narrow mouth Craniosynostosis Prominent forehead Diarrhea Anteverted nares Bilateral sensorineural hearing impairment Gastrointestinal dysmotility Cerebral cortical neurodegeneration Ethylmalonic aciduria Epilepsia partialis continua Phonic tics Cerebral degeneration Multifocal seizures Chronic hepatitis Gastric ulcer Microvesicular hepatic steatosis 3-Methylglutaconic aciduria Astrocytosis Absent lacrimal punctum


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Hypoglycemia, related diseases and genetic alterations