Intrauterine growth retardation, and Bifid uvula

Diseases related with Intrauterine growth retardation and Bifid uvula

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

Top matches:

Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Micrognathia
  • Low-set ears
  • Wide nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL FETAL CEREBRORENOGENITOURINARY AGENESIS/HYPOPLASIA SYNDROME

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Other less relevant matches:

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

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

High match DESMOSTEROLOSIS

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

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

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Bifid uvula

Symptoms // Phenotype % cases
Growth delay Very Common - Between 80% and 100% cases
Cleft palate Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Agenesis of corpus callosum Short stature Hypertelorism Intellectual disability Retrognathia Lissencephaly Depressed nasal ridge Patent ductus arteriosus Hypoplasia of the corpus callosum Ventricular septal defect Cryptorchidism Frontal bossing Ventriculomegaly Posteriorly rotated ears Seizures Renal agenesis Submucous cleft hard palate Proptosis Cleft lip Anteverted nares Macrogyria Severe short stature Wide mouth Prominent forehead Depressed nasal bridge Abnormal cortical gyration Micromelia Talipes equinovarus Anemia Long philtrum Absent septum pellucidum Hydrocephalus Abnormality of neuronal migration Dandy-Walker malformation Pachygyria Cerebellar hypoplasia Clinodactyly Ambiguous genitalia Wide nasal bridge Arthrogryposis multiplex congenita Cleft upper lip Toe syndactyly Osteoporosis Short nose Polymicrogyria Abnormality of the kidney Flexion contracture Limb undergrowth Microphthalmia

Rare Symptoms - Less than 30% cases

Polydactyly Tetralogy of Fallot Generalized hypotonia Thick lower lip vermilion Aplasia/Hypoplasia involving the skeletal musculature Renal hypoplasia/aplasia Joint contracture of the hand Dilatation Low-set, posteriorly rotated ears Myopathy Cataract Finger syndactyly Cognitive impairment Pulmonary hypoplasia Anal atresia Oral cleft Abnormality of cardiovascular system morphology Macrocephaly Skeletal muscle atrophy High palate Recurrent respiratory infections Specific learning disability Encephalocele Renal dysplasia Severe intrauterine growth retardation Hypoplasia of penis Occipital encephalocele Small for gestational age Corneal opacity Hypogonadism Delayed puberty Abnormality of the cerebellar vermis Talipes Hypertonia Ventricular hypertrophy Delayed myelination Feeding difficulties Thin vermilion border Microtia Hernia Wide nose Renal cyst Abnormality of the pinna Short neck Brachydactyly Hearing impairment Abnormality of the hair Hepatic fibrosis Rocker bottom foot Oligohydramnios Sloping forehead Epicanthus Neutropenia Muscular dystrophy Edema Postnatal growth retardation Polyhydramnios Syndactyly Downslanted palpebral fissures Narrow mouth Ambiguous genitalia, female Scoliosis Abnormality of cholesterol metabolism Alveolar ridge overgrowth Intermittent diarrhea Hypoplastic nasal bridge Clinodactyly of the 5th finger Intractable diarrhea Total anomalous pulmonary venous return 2-4 toe syndactyly Hypergalactosemia Secretory diarrhea Galactosuria Ambiguous genitalia, male Abnormality of the skeletal system Rigidity Telecanthus Kyphosis Humoral immunodeficiency Hypermethioninemia Intestinal malrotation Renal cortical microcysts Macrotia Osteopenia Increased serum iron Abnormality of earlobe Relative macrocephaly Gingival fibromatosis Nystagmus Trichorrhexis nodosa Splenomegaly Aplasia/Hypoplasia of the corpus callosum Abnormal thrombocyte morphology Microretrognathia Finger clinodactyly Cupped ear Muscle stiffness Metatarsus adductus Increased bone mineral density Spasticity Abnormality of the pancreas Strabismus Bilateral talipes equinovarus Dermal atrophy Partial agenesis of the corpus callosum Aplasia/Hypoplasia of the skin Abnormalities of placenta or umbilical cord Osteopetrosis Increased mean platelet volume Peripheral pulmonary artery stenosis Large placenta Large earlobe Abnormality of the nose Generalized osteosclerosis Rhizomelia Abnormality of iron homeostasis Anomalous pulmonary venous return Status epilepticus Generalized edema Camptodactyly Laryngomalacia Hamartoma Abnormal joint morphology Short finger Abnormality of the ear Mesomelia Hypoplastic toenails Preaxial hand polydactyly Hand polydactyly Genu varum Abnormality of the outer ear Foot polydactyly Joint dislocation Short ribs Bowing of the long bones Split hand Choanal atresia Interphalangeal joint contracture of finger Postaxial hand polydactyly Decreased testicular size High, narrow palate Postaxial polydactyly Primary adrenal insufficiency Median cleft lip Short philtrum Aplasia/Hypoplasia of the tibia Monorchism Microtia, third degree Oral synechia Aplasia/Hypoplasia of the mandible Bilateral lung agenesis Rectal atresia Absent testis Cerebral cortical hemiatrophy Perineal fistula Tongue nodules Short tibia Hamartoma of tongue Lobulated tongue Abnormal oral frenulum morphology Abnormality of the gingiva Accessory oral frenulum Abnormal oral mucosa morphology Subcortical cerebral atrophy Porencephalic cyst Abnormality of the tongue Rectovaginal fistula Abnormality of eye movement Camptodactyly of finger Abnormal cardiac septum morphology Rickets Osteomalacia Transposition of the great arteries External genital hypoplasia Prominent occiput Opisthotonus Bilateral cryptorchidism Radial deviation of finger Large hands Ectropion Patent foramen ovale Abnormality of the mouth Pterygium Spina bifida Decreased fetal movement Cerebral calcification Abnormality of the skin Ectodermal dysplasia Muscle cramps Everted lower lip vermilion Thick vermilion border Ichthyosis Abnormal eyelash morphology Absent eyelashes Conductive hearing impairment Small placenta Skeletal dysplasia Cerebral cortical atrophy Pectus excavatum Cerebral atrophy Yellow subcutaneous tissue covered by thin, scaly skin Type III lissencephaly Abnormality of limbs Ablepharon Short umbilical cord Choroid plexus cyst Broad foot Bifid uterus Abnormal nasolacrimal system morphology Abnormality of the philtrum Calcaneovalgus deformity Hydranencephaly Abnormality of nervous system morphology Large forehead Lack of skin elasticity Trismus Abnormal eyelid morphology Villous atrophy Hypoglycosylation of alpha-dystroglycan Woolly hair Increased mean corpuscular volume High forehead Micropenis Delayed skeletal maturation Abnormality of the dentition Persistence of hemoglobin F Fetal distress Reticulocytopenia Cleft soft palate Esophagitis Deeply set eye Acute leukemia Tracheomalacia Macrocytic anemia Triphalangeal thumb Abnormality of the hand Abnormality of the urinary system Melanoma Short thumb Thin upper lip vermilion Muscular hypotonia of the trunk Mitral regurgitation Spinal canal stenosis Hypocalcemic seizures Cellular immunodeficiency Aplasia/Hypoplasia affecting the eye Tetany Decreased circulating cortisol level Hyperphosphatemia Hypoparathyroidism External ear malformation Intestinal obstruction Astigmatism Abnormality of dental enamel Recurrent bacterial infections Hypocalcemia Convex nasal ridge Growth hormone deficiency Short foot Small hand Short palm Abnormality of the genital system Mitral valve prolapse Patchy osteosclerosis Gout Absent speech Cardiomyopathy Sensorineural hearing impairment Cerebral hypoplasia Vaginal atresia Renal hypoplasia Velopharyngeal insufficiency Elevated serum creatinine Hyperuricemia Coarse facial features Focal segmental glomerulosclerosis Preaxial polydactyly Chronic kidney disease Hematuria Nephropathy Proteinuria Recurrent infections Hypertension Obesity Umbilical hernia Migraine Periorbital fullness Autistic behavior Pallor Autism Arrhythmia Atrial septal defect Fatigue Neoplasm Skull asymmetry Severe failure to thrive Hypertrophic cardiomyopathy Protruding tongue Cutis marmorata Failure to thrive in infancy Short chin Left ventricular hypertrophy Small nail Macroglossia Severe global developmental delay Congenital hypoparathyroidism Muscle weakness Thrombocytosis Abnormal aldolase level Respiratory tract infection Elevated hepatic transaminase Jaundice Abnormal heart morphology Thrombocytopenia Immunodeficiency Diarrhea Hepatomegaly Thick cerebral cortex Sparse hair Hypoplastic male external genitalia Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Severe hydrocephalus Metatarsus valgus Abnormal levels of creatine kinase in blood Meningoencephalocele Posterior fossa cyst Abnormality of the liver Broad forehead Excessive daytime sleepiness Aortic regurgitation Underdeveloped supraorbital ridges Iron deficiency anemia Curly hair Abnormality of the immune system Brittle hair Hypoalbuminemia Recurrent upper respiratory tract infections Leukopenia Chronic diarrhea Pulmonic stenosis Fine hair Pancytopenia Aciduria Premature birth Sepsis Hepatic failure Cirrhosis Dry skin Remnants of the hyaloid vascular system Agyria Muscular hypotonia Protruding ear Microcornea Retinal detachment Retinal dystrophy Iris coloboma Congenital cataract Abnormality of the cerebral white matter Retinopathy Coloboma Hydronephrosis Cerebellar vermis hypoplasia Glaucoma Elevated serum creatine phosphokinase Hyporeflexia Areflexia Blindness Intellectual disability, severe Optic atrophy Myopia Intellectual disability, profound Heterotopia Cerebellar cyst Bilateral cleft lip Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Peters anomaly Aqueductal stenosis Buphthalmos Abnormality of the optic nerve Retinal dysplasia Megalocornea Severe muscular hypotonia Retinal atrophy Congenital glaucoma Hypoplasia of the brainstem Anophthalmia Congenital muscular dystrophy Congenital contracture Atresia of the external auditory canal Optic nerve hypoplasia Absent crus of helix


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