Intellectual disability, and Omphalocele

Diseases related with Intellectual disability and Omphalocele

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


Top matches:

High match ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY


Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY Is also known as isolated thyrotropin deficiency|thyrotropin deficiency, isolated|pituitary cretinism|isolated tsh deficiency|tsh deficiency|thyroid-stimulating hormone deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Depressed nasal bridge
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY

High match HOLOPROSENCEPHALY 7; HPE7


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

High match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

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Other less relevant matches:

High match FRASER SYNDROME


Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

High match SIFRIM-HITZ-WEISS SYNDROME; SIHIWES


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

High match DONNAI-BARROW SYNDROME


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

High match 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 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

High match 3MC SYNDROME 3; 3MC3


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

High match OTOPALATODIGITAL SYNDROME, TYPE I; OPD1


Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1 ), otopalatodigital syndrome-2 (OPD2 ), and Melnick-Needles syndrome (MNS ), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'

OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 Is also known as opd syndrome 1|opd i syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

High match BARTSOCAS-PAPAS SYNDROME


Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

BARTSOCAS-PAPAS SYNDROME Is also known as pterygium, popliteal, lethal type|autosomal recessive popliteal pterygium syndrome|bps|lethal popliteal pterygium syndrome|multiple pterygium syndrome, aslan type|bartsocas-papas syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BARTSOCAS-PAPAS SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability and Omphalocele

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Low-set ears Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Intellectual disability and Omphalocele. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Umbilical hernia Growth delay Short stature Generalized hypotonia Cleft lip Short nose Microcephaly Cleft upper lip Conductive hearing impairment Epicanthus Oral cleft Abnormal facial shape Scoliosis Micrognathia Cleft palate Wide nasal bridge Macrocephaly Broad forehead Midface retrusion Bilateral cleft lip Abnormal heart morphology Highly arched eyebrow Ventricular septal defect Ptosis Bilateral cleft lip and palate Ambiguous genitalia Toe syndactyly Blepharophimosis Cognitive impairment Hypospadias Wormian bones Microphthalmia Hip dislocation Telecanthus Frontal bossing Downslanted palpebral fissures Hernia

Rare Symptoms - Less than 30% cases


Elbow dislocation Prominent supraorbital ridges Wide intermamillary distance Underdeveloped nasal alae Pulmonary hypoplasia Epiphyseal dysplasia Short 5th finger Finger syndactyly Broad foot Supernumerary nipple Short sternum Ectropion Scrotal hypoplasia Radioulnar synostosis Small hand Depressivity Abnormality of cardiovascular system morphology Muscular hypotonia of the trunk Postnatal growth retardation Congenital hip dislocation Flat face Renal hypoplasia Diastasis recti Anal stenosis Clinodactyly Talipes Intellectual disability, moderate Cupped ear Short palpebral fissure Syndactyly Micropenis Malar flattening Narrow mouth Patent ductus arteriosus Bifid tongue Caudal appendage Abnormality of the skeletal system Epicanthus inversus Congenital diaphragmatic hernia Bilateral conductive hearing impairment Short thumb Abnormal vertebral morphology Bicornuate uterus Abnormality of the genitourinary system Facial cleft Craniosynostosis Dental malocclusion Macroglossia Skeletal dysplasia Protruding ear Partial agenesis of the corpus callosum Median cleft lip Upslanted palpebral fissure Agenesis of corpus callosum Depressed nasal tip Broad face Anteverted nares High palate Seizures Congenital hypothyroidism Wide anterior fontanel Talipes equinovarus Iris coloboma Hypothyroidism Constipation Coarse facial features Penoscrotal hypospadias Preaxial polydactyly Aplasia cutis congenita Downturned corners of mouth Bifid scrotum Joint hypermobility Prominent nasal bridge Shawl scrotum Irregular vertebral endplates Multiple cafe-au-lait spots Skin dimples Abnormality of the vertebral column Spontaneous abortion Urethral valve Prominent coccyx Intellectual disability, mild Absent thumb Pectus excavatum Oral synechia Clinodactyly of the 5th finger Sparse lower eyelashes Severe short stature Bilateral cleft palate Truncal obesity Adactyly Renal agenesis Absent eyelashes Labial hypoplasia Aplasia/Hypoplasia of the distal phalanges of the toes Popliteal pterygium Hypoplastic male external genitalia Unilateral renal hypoplasia Ankyloblepharon Broad philtrum Sparse or absent eyelashes Hypoplasia of the musculature Alopecia totalis Limited elbow movement Esodeviation Prominent superficial veins Synostosis of joints Prominence of the premaxilla Partial abdominal muscle agenesis Eyelid coloboma Edema Aplasia/Hypoplasia of the eyebrow Hypoplastic scapulae Abnormality of the kidney Hypoplastic labia majora Skin tags Torticollis Abnormality of the pinna Horseshoe kidney Congestive heart failure Obesity Nail dystrophy Bipartite calcaneus Narrow palpebral fissure Opacification of the corneal stroma Cafe-au-lait spot Hypoplastic frontal sinuses Short phalanx of finger Abnormality of the genital system Sparse scalp hair Small nail Hypoplasia of the maxilla Confusion Multiple impacted teeth Short 3rd metacarpal Capitate-hamate fusion Broad distal phalanx of the thumb Accessory carpal bones Renal hypoplasia/aplasia Abnormality of the tarsal bones Limited knee flexion Thick skull base Arthrogryposis multiplex congenita Corneal opacity Bulbous tips of toes Lateral femoral bowing Long second metacarpal Abnormality of the fifth metatarsal bone Flexion contracture Intrauterine growth retardation Pes planus Short neck Alopecia Sacral dimple Absent frontal sinuses Short palm Abnormality of the metacarpal bones Short distal phalanx of finger Anonychia Hypoplastic toenails Mask-like facies Bifid uvula Limitation of joint mobility Nail dysplasia Bowing of the long bones Broad thumb Increased bone mineral density Coxa valga Finger clinodactyly Sandal gap Oligodontia Proximal placement of thumb Pterygium Anodontia Selective tooth agenesis Short 5th metacarpal Delayed closure of the anterior fontanelle Absent eyebrow Short 4th metacarpal Short hallux Bilateral cryptorchidism Broad hallux Synostosis of carpal bones Dislocated radial head Thickened calvaria Limited elbow extension Prominent occiput Thoracic hypoplasia Abnormal vertebral segmentation and fusion Gait imbalance Strabismus Clumsiness Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Anemia Motor delay Cardiomyopathy Dilatation Delayed skeletal maturation Elevated serum creatine phosphokinase Joint laxity Dry skin Delayed eruption of teeth Limb undergrowth Broad-based gait Hoarse voice Alobar holoprosencephaly Increased T3/T4 ratio Dental crowding Encephalocele Hypoplasia of penis Anal atresia Low-set, posteriorly rotated ears Blindness No permanent dentition Increased body weight Thyroid hormone receptor defect Long thorax Drowsiness Relative macrocephaly Hypercholesterolemia Coxa vara Hypoplasia of the premaxilla Semilobar holoprosencephaly Atresia of the external auditory canal Growth hormone deficiency Pseudohypoparathyroidism Pituitary hypothyroidism Severe postnatal growth retardation Hypopituitarism Intellectual disability, progressive Large fontanelles Abdominal distention Narcolepsy Sleep disturbance Jaundice Abnormality of metabolism/homeostasis Intellectual disability, severe Fatigue Feeding difficulties Hoarse cry Hypothalamic hypothyroidism Parietal bossing Holoprosencephaly Midline defect of the nose Single median maxillary incisor Median cleft lip and palate Bilateral microphthalmos Panhypopituitarism Flat occiput Hypotelorism Craniopharyngioma Prominent nose Smooth philtrum Thin upper lip vermilion Macrotia Hydrocephalus Brachydactyly Multicystic kidney dysplasia Anophthalmia Non-acidotic proximal tubulopathy Myopia Retinal dystrophy Coloboma Proteinuria Proptosis Prominent forehead Posteriorly rotated ears Cataract Broad nasal tip Sensorineural hearing impairment Muscular hypotonia Flat acetabular roof Short clavicles Anteriorly placed anus Neurodevelopmental delay Retinal detachment Intestinal malrotation Trigonocephaly Widow's peak Low-molecular-weight proteinuria Infra-orbital crease Macular hypoplasia Diaphragmatic eventration Proximal tubulopathy Abnormality of the uterus Hypoplasia of the iris Progressive visual loss Severe sensorineural hearing impairment Long nose Aplasia/Hypoplasia of the corpus callosum Aminoaciduria Heterotopia High myopia Short femoral neck Arnold-Chiari malformation Vertebral segmentation defect Vaginal atresia Urethral atresia Female pseudohermaphroditism Abnormality of the middle ear Laryngeal stenosis Subglottic stenosis Abnormal vagina morphology Abnormal hair pattern Cleft ala nasi Ectopic anus Calvarial skull defect Tracheal stenosis Myelomeningocele Abnormal lung lobation External ear malformation Cryptophthalmos Wide pubic symphysis Coarctation of aorta Abnormal cardiac septum morphology Tetralogy of Fallot Vesicoureteral reflux Postural instability Tapered finger Postaxial polydactyly Astigmatism Polydactyly Lacrimal duct aplasia Hypogonadism Renal insufficiency Atrial septal defect Ventriculomegaly Malformed lacrimal duct Midline nasal groove Symblepharon



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