Global developmental delay, and Omphalocele

Diseases related with Global developmental delay and Omphalocele

In the following list you will find some of the most common rare diseases related to Global developmental delay and Omphalocele that can help you solving undiagnosed cases.

Top matches:

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|foar syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic her

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DONNAI-BARROW SYNDROME

Other less relevant matches:

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ABLEPHARON MACROSTOMIA SYNDROME

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 2; 3MC2 Is also known as ptosis of eyelids with diastasis recti and hip dysplasia|oculo-skeletal-abdominal syndrome|carnevale syndrome, formerly|osa syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 3MC SYNDROME 2; 3MC2

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.

CEREBROCOSTOMANDIBULAR SYNDROME Is also known as rib gap defects with micrognathia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CEREBROCOSTOMANDIBULAR SYNDROME

Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). Genetic Heterogeneity of 3MC SyndromeAlso see 3MC syndrome-2 (3MC2 ), caused by mutation in the COLEC11 gene (OMIM ), and 3MC syndrome-3 (3MC3 ), caused by mutation in the COLEC1 gene (OMIM ).

3MC SYNDROME 1; 3MC1 Is also known as michels syndrome, formerly|oculopalatoskeletal syndrome|craniosynostosis with lid anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about 3MC SYNDROME 1; 3MC1

The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum|schinzel acrocallosal syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME; ACLS

Top 5 symptoms//phenotypes associated to Global developmental delay and Omphalocele

Symptoms // Phenotype % cases
Low-set ears Very Common - Between 80% and 100% cases
Hypertelorism Very Common - Between 80% and 100% cases
Epicanthus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Global developmental delay and Omphalocele. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases

Hernia

Common Symptoms - More than 50% cases

Umbilical hernia

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Abnormal heart morphology Postnatal growth retardation Abnormal facial shape Generalized hypotonia Micrognathia Cleft palate Short nose Diastasis recti Patent ductus arteriosus Telecanthus Short stature Bilateral cleft lip and palate Abnormality of the pinna Bilateral cleft lip Macrocephaly Cryptorchidism Cognitive impairment Hypospadias Seizures Craniosynostosis Cleft lip Cleft upper lip Conductive hearing impairment Broad forehead Microcephaly Highly arched eyebrow Ptosis Scoliosis Polydactyly Caudal appendage Epicanthus inversus Myopia Edema Micropenis Postaxial polydactyly Supernumerary nipple Downslanted palpebral fissures Malar flattening Bilateral conductive hearing impairment Posteriorly rotated ears Wide anterior fontanel Radioulnar synostosis Short 5th finger Strabismus Failure to thrive Muscular hypotonia of the trunk Broad foot Blepharophimosis Small hand Clinodactyly of the 5th finger Depressivity Upslanted palpebral fissure High palate Brachydactyly Partial agenesis of the corpus callosum Oral cleft Atrial septal defect Wide nasal bridge Frontal bossing Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases

Clinodactyly Anal atresia Postaxial hand polydactyly Ectropion Redundant skin Atresia of the external auditory canal Sacral dimple Thin vermilion border Long philtrum Abnormality of cardiovascular system morphology Toe syndactyly Finger syndactyly Depressed nasal tip Syndactyly Epiphyseal dysplasia Aplasia/Hypoplasia of the corpus callosum Cerebellar hypoplasia Dental malocclusion Optic atrophy Anteverted nares Polyhydramnios Spina bifida Preaxial polydactyly Multicystic kidney dysplasia Spontaneous abortion Intellectual disability, moderate Midface retrusion Nystagmus Horseshoe kidney Protruding ear Smooth philtrum Iris coloboma Congenital diaphragmatic hernia Ataxia Abnormal vertebral morphology Abnormality of the dentition Depressed nasal bridge Pulmonary hypoplasia Prominent forehead Anteriorly placed anus Tapered finger Coloboma Wormian bones Ambiguous genitalia Abnormal cardiac septum morphology Retinal dystrophy Abnormality of the skeletal system Sensorineural hearing impairment Hypogonadism Ventriculomegaly Arachnoid cyst Postaxial foot polydactyly Preaxial foot polydactyly Short philtrum Absent soft palate Absent uvula Rectovaginal fistula Short hard palate Mandibular aplasia Hydranencephaly Porencephalic cyst Anomalous tracheal cartilage Rib gap Anencephaly Anomalous rib insertion to vertebrae Calcaneal epiphyseal stippling Posterior rib gap Paradoxical respiration Abnormality of digit External genital hypoplasia Muscular hypotonia Spasticity Hepatomegaly Molar tooth sign on MRI Tremor Short neck Prominent occiput Cleft soft palate Missing ribs Hypoplasia of teeth Ectopic kidney Gastroesophageal reflux Cough Narrow chest Renal cyst Webbed neck Cerebral calcification Abnormality of the ribs Intracranial cystic lesion Elbow flexion contracture Congenital hip dislocation Bifid distal phalanx of the thumb Nasal speech Duplication of thumb phalanx Neonatal respiratory distress Thoracic hypoplasia 11 pairs of ribs Duplication of phalanx of hallux Short humerus Cerebral hypoplasia Anal stenosis Tracheomalacia Abnormal pulmonary valve morphology Triangular mouth Glossoptosis Bell-shaped thorax Meningocele Pierre-Robin sequence Myelomeningocele Respiratory failure Hypopigmentation of the fundus Recurrent respiratory infections Micromelia Rigidity Intellectual disability, mild Dental crowding Growth hormone deficiency Short foot Abnormality of eye movement Hydronephrosis Glaucoma Diarrhea Underdeveloped supraorbital ridges Bifid uvula Extrapulmonary sequestrum Esotropia Hypoplastic colon Hypoplasia of the small intestine Aplasia/Hypoplasia of the macula Spina bifida occulta Coronal craniosynostosis Pancreatic fibrosis Hypoplasia of the corpus callosum Retrognathia Severe global developmental delay Hypothyroidism Inguinal hernia Cerebral atrophy Intellectual disability, severe Hypertension Conjunctival telangiectasia Abnormality of the occipital bone Single interphalangeal crease of fifth finger Skull asymmetry Cranial asymmetry Abnormal anterior chamber morphology Lambdoidal craniosynostosis Cerebral cortical hemiatrophy Wide intermamillary distance Diabetes insipidus Renal dysplasia Finger clinodactyly Microretrognathia Hepatic fibrosis Preaxial hand polydactyly Thickened skin Abnormality of the face Depressed nasal ridge Hydrops fetalis Renal hypoplasia Limb undergrowth Specific learning disability Ascites Hypopigmentation of the skin Apnea Preauricular skin tag Muscle stiffness Dandy-Walker malformation Polysplenia Abnormality of the cerebellar vermis Lymphangioma Subcortical cerebral atrophy Oxycephaly Cystic renal dysplasia Rib fusion Broad neck Hemivertebrae Enlarged kidney Open mouth Generalized hyperpigmentation Cystic hygroma Macular dystrophy Premature graying of hair Protuberant abdomen Renal insufficiency Kyphosis Proximal tubulopathy Panhypopituitarism Non-acidotic proximal tubulopathy Low-molecular-weight proteinuria Infra-orbital crease Macular hypoplasia Diaphragmatic eventration Short sternum Flexion contracture Bicornuate uterus Abnormality of the uterus Widow's peak Hypoplasia of the iris Severe sensorineural hearing impairment Long nose Broad face Delayed speech and language development Aminoaciduria Abnormality of skin pigmentation Hypoplasia of penis Microdontia Underdeveloped nasal alae Short metacarpal Ectodermal dysplasia Hypoplasia of the maxilla Dry skin Visual impairment Corneal opacity Microtia Camptodactyly of finger Sparse hair Wide mouth Camptodactyly Talipes equinovarus Prominent supraorbital ridges Bilateral microphthalmos Fine hair Coarctation of aorta Neurodevelopmental delay Short femoral neck Cupped ear Trigonocephaly Arnold-Chiari malformation Short palpebral fissure Tetralogy of Fallot Flat acetabular roof Vesicoureteral reflux Postural instability Fusion of the left and right thalami Astigmatism Coarse facial features Flat nasal alae Short clavicles Gait imbalance Heterotopia Proteinuria High myopia Progressive visual loss Intestinal malrotation Broad nasal tip Retinal detachment Median cleft lip and palate Single median maxillary incisor Absent nasal septal cartilage Proptosis Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Cataract Interphalangeal joint contracture of finger Hypertrichosis Respiratory distress Abnormality of the vertebral column Esodeviation Limited elbow movement Hypoplasia of the musculature Hydrocephalus Broad philtrum Microphthalmia Macrotia Partial abdominal muscle agenesis Torticollis Thin upper lip vermilion Downturned corners of mouth Joint hypermobility Hip dislocation Prominent nasal bridge Prominence of the premaxilla Congestive heart failure Hypotelorism Irregular vertebral endplates Intrauterine growth retardation Feeding difficulties Prominent coccyx Urethral valve Penoscrotal hypospadias Skin dimples Shawl scrotum Abnormality of the kidney Facial cleft Bifid scrotum Elbow dislocation Abnormality of the genitourinary system Scrotal hypoplasia Renal agenesis Talipes Prominent nose Holoprosencephaly Thin skin Hypoplastic nipples Corneal erosion Abnormality of finger Hypoplasia of the zygomatic bone Shallow orbits Abnormality of the mouth Absent eyelashes Absent eyebrow Conical tooth Sparse eyebrow Abnormality of the outer ear Cutis laxa Cutaneous syndactyly Short chin Abnormality of the genital system Abnormal hair pattern Labial hypoplasia Flat occiput Cryptophthalmos Median cleft lip Long uvula Ventral hernia Absent hair Microtia, third degree Ablepharon Abnormality of female external genitalia High-frequency hearing impairment Short upper lip Abnormal nasal morphology Overbite Excessive wrinkled skin Breast hypoplasia Absent nipple Aplasia/Hypoplasia of the nipples Pulmonary valve defects


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