Intrauterine growth retardation, and Encephalocele

Diseases related with Intrauterine growth retardation and Encephalocele

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

Top matches:

Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 2; MKS2 Is also known as meckel-gruber syndrome, type 2

Related symptoms:

  • Growth delay
  • Cleft palate
  • Intrauterine growth retardation
  • Microphthalmia
  • Polydactyly


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 2; MKS2

Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

Other less relevant matches:

Medium match HARTSFIELD SYNDROME

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

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

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

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

Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.

PHOCOMELIA, SCHINZEL TYPE Is also known as al-awadi/raas-rothschild syndrome|aarrs|lphas|congenital absence of ulna and fibula|aplasia/hypoplasia of limbs and pelvis|al awadi-raas-rothschild syndrome|severe limb deficit|limb/pelvis-hypoplasia/aplasia syndrome|schinzel phocomelia syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PHOCOMELIA, SCHINZEL TYPE

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

Symptoms // Phenotype % cases
Microphthalmia Very Common - Between 80% and 100% cases
Cleft palate Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Agenesis of corpus callosum

Uncommon Symptoms - Between 30% and 50% cases

Polydactyly Dandy-Walker malformation Occipital encephalocele Anencephaly Anal atresia Cleft lip Hypertelorism Hypospadias Intellectual disability Microcephaly Meningoencephalocele Meningocele Bowing of the long bones Postaxial hand polydactyly Renal cyst Postaxial polydactyly Micrognathia Global developmental delay Hemivertebrae Respiratory insufficiency Protruding ear Growth delay Hip dislocation Cleft upper lip Oral cleft Holoprosencephaly Hypoplasia of the brainstem Absent septum pellucidum Single umbilical artery Pulmonary hypoplasia Hydronephrosis Cerebellar dysplasia Macrocephaly Bile duct proliferation Dilatation Flexion contracture Telecanthus Cerebellar hypoplasia Renal dysplasia

Rare Symptoms - Less than 30% cases

Abnormality of the optic nerve Abnormal cortical gyration Congenital muscular dystrophy Severe hydrocephalus Ventriculomegaly Accessory spleen Arrhinencephaly Retinal dysplasia Intellectual disability, severe Buphthalmos Broad neck Bilateral cleft lip Pachygyria Type II lissencephaly Cerebellar cyst Agyria Preaxial polydactyly Heterotopia Omphalocele Myopathy Abnormality of the pinna Lissencephaly Optic atrophy Cerebellar vermis hypoplasia Spina bifida Muscular dystrophy Occipital meningocele Abnormality of the cerebral white matter Tracheoesophageal fistula Anophthalmia Polyhydramnios Congenital cataract Microtia Polymicrogyria Glaucoma Iris coloboma Aqueductal stenosis Seizures Generalized hypotonia Muscle weakness Retinal detachment Renal agenesis Microcornea Muscular hypotonia Cataract Myopia Hypoplasia of penis Skeletal muscle atrophy Hypoplasia of the radius Areflexia Talipes equinovarus Scrotal hypoplasia Short neck Micropenis Posteriorly rotated ears Syndactyly Wide nasal bridge Epicanthus Bifid nose Calvarial skull defect Oligohydramnios Intellectual disability, profound Brachycephaly Hypogonadism Frontal bossing Depressed nasal bridge Strabismus Agenesis of cerebellar vermis Atrial septal defect Hypoplasia of the corpus callosum Ventricular septal defect Hypotelorism Neonatal hypotonia Split hand Hypoglycosylation of alpha-dystroglycan Megalocornea Talipes Aplasia/Hypoplasia of the corpus callosum Elevated serum creatine phosphokinase Ectrodactyly Natal tooth Sloping forehead Webbed neck Transposition of the great arteries Spinal rigidity Ambiguous genitalia, male Portal fibrosis Ambiguous genitalia, female Elevated alpha-fetoprotein Calf muscle hypertrophy Cortical dysplasia Generalized amyotrophy Multiple joint contractures Increased variability in muscle fiber diameter Abnormality of the genital system Hepatic fibrosis Skeletal muscle hypertrophy Spontaneous abortion Mask-like facies Polycystic kidney dysplasia Multicystic kidney dysplasia Weak cry Intestinal malrotation Atrophy/Degeneration affecting the brainstem Hypoplasia of the pyramidal tract Foot polydactyly Adrenal hypoplasia Asplenia Breech presentation Patent ductus arteriosus Abnormality of the uterus Clinodactyly Splenomegaly Abnormality of the larynx Cystic renal dysplasia Cephalocele Abnormality of the ureter Arnold-Chiari malformation External genital hypoplasia Wide mouth Abnormal cardiac septum morphology Thoracic hemivertebrae Hydroureter Exaggerated startle response Radial deviation of finger Myocardial fibrosis Ankle contracture Coarctation of aorta Ambiguous genitalia Lobulated tongue Prominent sternum Aplasia/hypoplasia of the femur Broad clavicles Aplasia/Hypoplasia involving the metacarpal bones Elbow ankylosis Aplasia of the ulna Long ear Foot oligodactyly Congenital pseudoarthrosis of the clavicle Humeroradial synostosis Phocomelia Fibular aplasia Hand oligodactyly Aplasia of the uterus Abnormality of tibia morphology Decreased calvarial ossification Hypoplastic sacrum Hypoplastic pelvis Aplasia/Hypoplasia of the pubic bone Lower limb phocomelia Humeroulnar synostosis Aplasia/Hypoplasia of the tarsal bones Aplasia/Hypoplasia involving the carpal bones Anteriorly displaced genitalia Aplastic pubic bones Pilonidal sinus Aplasia/Hypoplasia of the phalanges of the hand Aplasia/Hypoplasia involving the pelvis Aplasia/Hypoplasia of the sacrum Rectal fistula Acrania Aplasia/Hypoplasia of metatarsal bones Aplasia/Hypoplasia of the phalanges of the toes Carpal bone aplasia Broad ribs Barrel-shaped chest Urethral atresia Abnormal facial shape Skeletal dysplasia Macrotia Hernia Short nose Abnormality of the skeletal system High palate Craniorachischisis Micromelia Large placenta Olfactory lobe agenesis Elevated amniotic fluid alpha-fetoprotein Hypoplasia of the bladder Urethral obstruction Cerebral hypoplasia Neural tube defect Pectus carinatum Long face Radial bowing Patent foramen ovale Oligodactyly Hypoplastic nipples Disproportionate short stature Femoral bowing Anonychia Unilateral renal agenesis Narrow palate High, narrow palate Elbow flexion contracture Hydrops fetalis Small nail Congenital diaphragmatic hernia Knee flexion contracture Nail dysplasia Short foot Plagiocephaly Retinal dystrophy EMG abnormality Duplication of phalanx of hallux Hypoplasia of the frontal bone Lobar holoprosencephaly Premature birth Preaxial hand polydactyly Abnormal lung lobation Median cleft lip Upper limb undergrowth Bilateral cleft lip and palate Tracheal stenosis Preaxial foot polydactyly Complete atrioventricular canal defect Abnormal vagina morphology Laryngeal hypoplasia Bifid uterus Hypernatremia Agenesis of the diaphragm Adrenal gland dysgenesis Cleft in skull base Proximal tibial hypoplasia Anemia Abnormality of cardiovascular system morphology Abnormal heart morphology Inguinal hernia Respiratory failure Retrognathia Abnormality of the kidney Renal hypoplasia Abnormal form of the vertebral bodies Duplication of thumb phalanx Semilobar holoprosencephaly Abnormality of the outer ear Ptosis Molar tooth sign on MRI Nystagmus Anteverted nares Abnormality of the dentition Intellectual disability, mild Alopecia Upslanted palpebral fissure Intellectual disability, moderate Underdeveloped nasal alae Fine hair Coronal craniosynostosis Conical tooth Broad philtrum Downslanted palpebral fissures Long hallux Low-set, posteriorly rotated ears Craniosynostosis Severe global developmental delay Wide nose Ectodermal dysplasia Cutaneous syndactyly Poor head control Diabetes insipidus Non-midline cleft lip Abnormality of digit Aplasia/Hypoplasia of the radius Gonadotropin deficiency Central diabetes insipidus Abnormal vertebral morphology Renal hypoplasia/aplasia Congenital hip dislocation Pectus excavatum Macrogyria Abnormal lactate dehydrogenase activity Chorioretinal dysplasia Hypoplastic male external genitalia Aplasia/Hypoplasia involving the skeletal musculature Thick cerebral cortex Abnormal aldolase level Scoliosis Delayed speech and language development Visual impairment Motor delay Gait disturbance Respiratory distress EEG abnormality Abnormality of the cerebellar vermis Rigidity Apnea Camptodactyly of finger Dilated cardiomyopathy Dolichocephaly Arthrogryposis multiplex congenita Hypermetropia Pulmonic stenosis Abnormal cerebellum morphology Generalized muscle weakness Brain atrophy Preauricular skin tag Bradycardia Metatarsus valgus Abnormal levels of creatine kinase in blood Absent thumb Corneal opacity Abnormality of the vertebral column Esophageal atresia Anotia Femoral hernia Radial club hand Absence of the sacrum Abnormality of the fallopian tube Microtia, third degree Blindness Hyporeflexia Proptosis Coloboma Retinopathy Bifid uvula Posterior fossa cyst Specific learning disability Severe muscular hypotonia Optic nerve hypoplasia Atresia of the external auditory canal Congenital contracture Abnormality of neuronal migration Congenital glaucoma Submucous cleft hard palate Retinal atrophy Peters anomaly Muscle fiber splitting Excessive daytime sleepiness Remnants of the hyaloid vascular system Colonic stenosis


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