Failure to thrive, and Omphalocele

Diseases related with Failure to thrive and Omphalocele

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

Top matches:

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

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

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

Other less relevant matches:

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

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

OTOPALATODIGITAL SYNDROME TYPE 2 Is also known as faciopalatoosseous syndrome|opd syndrome 2|opd ii syndrome|fpo|cranioorodigital syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about OTOPALATODIGITAL SYNDROME TYPE 2

High match C SYNDROME

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

MARSHALL-SMITH SYNDROME Is also known as accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MARSHALL-SMITH SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Omphalocele

Symptoms // Phenotype % cases
Cleft palate Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Omphalocele. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases

Abnormal heart morphology

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing

Common Symptoms - More than 50% cases

Postnatal growth retardation

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Patent ductus arteriosus Conductive hearing impairment Epicanthus Abnormality of the ribs Intrauterine growth retardation Abnormal cardiac septum morphology Short nose Abnormality of cardiovascular system morphology Ventricular septal defect Hydronephrosis Seizures Agenesis of corpus callosum Posteriorly rotated ears Clinodactyly of the 5th finger Prominent forehead Polydactyly Abnormal facial shape Hernia Umbilical hernia Abnormality of the skeletal system Pectus excavatum Postaxial hand polydactyly Wide anterior fontanel Talipes equinovarus Motor delay Clinodactyly Generalized hypotonia Hypertension Syndactyly Cerebellar hypoplasia Hypoplasia of the corpus callosum Retrognathia High palate Multicystic kidney dysplasia Hypospadias Polyhydramnios Thin vermilion border High forehead Malar flattening Inguinal hernia Anteverted nares Narrow chest Downslanted palpebral fissures Wide nasal bridge Spina bifida Bowing of the long bones Sacral dimple Growth hormone deficiency Hip dislocation Choanal atresia Strabismus Long philtrum Ventriculomegaly Intellectual disability, severe Kyphosis Toe syndactyly Postaxial polydactyly Respiratory distress Depressed nasal bridge Preaxial polydactyly Feeding difficulties Pneumonia Respiratory tract infection Pulmonary hypoplasia Tetralogy of Fallot Craniosynostosis Proptosis Muscular hypotonia Flexion contracture Thoracic hypoplasia Ectopic kidney Glossoptosis

Rare Symptoms - Less than 30% cases

Brachydactyly Optic atrophy Macrocephaly Talipes Anal stenosis Platyspondyly Abnormality of the dentition Apnea Abnormality of the pinna Short philtrum Broad forehead Finger syndactyly Cerebral atrophy Horseshoe kidney Nystagmus Hirsutism Duodenal atresia Gingival overgrowth Prominent occiput Respiratory insufficiency Cognitive impairment Recurrent respiratory infections Pachygyria Abnormality of the genital system Macrotia Kyphoscoliosis Delayed eruption of teeth Skeletal dysplasia Delayed skeletal maturation Smooth philtrum Anal atresia Hydrocephalus Renal dysplasia Congenital diaphragmatic hernia Large fontanelles Short thumb Abnormal vertebral morphology Intestinal malrotation Vesicoureteral reflux Hemivertebrae Facial asymmetry Camptodactyly of finger Abnormality of the kidney Low-set, posteriorly rotated ears Pierre-Robin sequence Congestive heart failure Myelomeningocele Bifid uvula Laryngomalacia Bifid scrotum Unilateral renal agenesis Rectovaginal fistula Postaxial foot polydactyly Short metacarpal Anencephaly Midface retrusion Preaxial hand polydactyly Missing ribs Aplasia/Hypoplasia of the corpus callosum Tracheomalacia Preauricular skin tag Open mouth Pes planus Recurrent aspiration pneumonia Flat face Bilateral conductive hearing impairment Ptosis Dysphagia Cataract Ataxia Prominent supraorbital ridges Hydroureter Diastasis recti Oligohydramnios Tibial bowing Radioulnar synostosis Congenital hip dislocation Oral cleft Cleft upper lip Cleft lip Sclerosis of skull base Pulmonary arterial hypertension Coxa valga Short humerus Cerebral cortical atrophy Genu valgum Camptodactyly Joint hyperflexibility Short distal phalanx of finger Ureteral obstruction Upslanted palpebral fissure Short ribs Increased bone mineral density Broad thumb Encephalocele Erythroderma Interphalangeal joint contracture of finger Short palm Intestinal obstruction Scaling skin Confusion Narrow mouth Respiratory failure Keratitis Abnormal eyelash morphology Absent eyebrow Absent eyelashes Mixed hearing impairment Psoriasiform dermatitis Oligodontia Wormian bones Abnormality of dental enamel Abnormality of the hair Blepharitis Hypoplasia of dental enamel Abnormality of the nail Recurrent bacterial infections Short metatarsal Scarring Conjunctivitis Opacification of the corneal stroma Urticaria Aganglionic megacolon Plagiocephaly Abnormality of the hand Epidermal acanthosis Palmoplantar keratoderma Abnormality of the genitourinary system Abnormality of the metacarpal bones Unilateral chest hypoplasia Corneal opacity Absent septum pellucidum Recurrent corneal erosions Hypoplastic fingernail Nail dysplasia Ectodermal dysplasia Hypotrichosis Submucous cleft hard palate Alopecia of scalp Heat intolerance Astigmatism Corneal scarring Dry skin Abnormality of the upper urinary tract Subcortical cerebral atrophy Cheilitis Alopecia universalis Oxycephaly Uveitis Thin eyebrow Alopecia totalis Parakeratosis Brain atrophy Olivopontocerebellar atrophy Oligodactyly Abnormal nasolacrimal system morphology Abnormal eyelid morphology Congenital ichthyosiform erythroderma Papule Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Abnormality of the vertebral column Scleritis Hypoplasia of the bladder Nail dystrophy Ichthyosis Eczema Abnormality of temperature regulation Cerebral cortical hemiatrophy Atonic seizures Corneal erosion Ectrodactyly Paronychia Episcleritis Follicular hyperkeratosis Specific learning disability Hyperconvex fingernails Hypohidrosis Chordee Elbow dislocation Pseudohypoaldosteronism Thick eyebrow Polymicrogyria Synophrys Osteopenia Fatigue Muscle weakness Fused sternal ossification centers Thick anterior alveolar ridges Midline facial capillary hemangioma Right-to-left shunt Hypoplasia of the ear cartilage Renal cortical cysts Conotruncal defect Female pseudohermaphroditism Recurrent fractures Metopic synostosis Abnormality of the anus Septo-optic dysplasia Accessory oral frenulum Macrogyria Laryngeal hypoplasia Short mandibular rami Prominence of the premaxilla Broad alveolar ridges Bullet-shaped middle phalanges of the hand Medulloblastoma Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the helix Bruising susceptibility Aciduria Ulnar deviation of finger Overfolded helix Short sternum Abnormality of the larynx Villous atrophy Upper airway obstruction Choanal stenosis Obstructive sleep apnea Shallow orbits Megalocornea Poor appetite Hypoplasia of the odontoid process Spinal canal stenosis Protruding tongue Slender long bone Increased susceptibility to fractures Overgrowth Incoordination Eclabion Dicarboxylic aciduria Reduced bone mineral density Sleep apnea Atlantoaxial dislocation Accelerated skeletal maturation Irregular dentition Generalized hirsutism Increased body weight Tall stature Decreased body weight Thin skin Blue sclerae Abnormal hair pattern Abnormality of immune system physiology Rocker bottom foot Overlapping fingers Spondylolysis Abnormal vertebral segmentation and fusion Abnormality of the middle ear ossicles Hypoplastic frontal sinuses Ulnar bowing Wide nasal base Fibular aplasia Lethal skeletal dysplasia Delayed closure of the anterior fontanelle Flared iliac wings Broad face Short 1st metacarpal Hypoplastic ilia Short hallux Rudimentary fibula Anodontia Radial bowing Carpal synostosis Growth hormone excess Synostosis of carpal bones Thickened calvaria Abnormal heart valve morphology Pathologic fracture Tarsal synostosis Femoral bowing Congenital glaucoma Broad hallux Hyperostosis Bilateral coxa valga Radial deviation of the 2nd finger Dislocated radial head Intellectual disability, profound Biparietal narrowing Multiple joint contractures Radial deviation of finger Clitoral hypertrophy Trigonocephaly Hand polydactyly Failure to thrive in infancy Redundant skin Renal hypoplasia/aplasia Cutis laxa Short chin Joint dislocation Bilateral single transverse palmar creases Limb undergrowth Large sternal ossification centers Limitation of joint mobility Micromelia Wide mouth Neonatal hypotonia Constipation Short neck Hepatomegaly Nonossified fifth metatarsal Undulate clavicles Irregular metacarpals Vertical clivus Developmental regression Bulbous tips of toes Accessory carpal bones Erythema Abnormality of the urethra Mental deterioration Decreased fetal movement Premature skin wrinkling Infantile spasms Progressive spastic paraplegia Spastic diplegia Abnormality of neuronal migration Deep philtrum Infantile muscular hypotonia Lissencephaly Joint contracture of the hand Spastic gait Heterotopia Narrow forehead Deep palmar crease Abnormality of the cardiovascular system Single transverse palmar crease Nephropathy Wide nose Paraplegia Spastic paraplegia EEG abnormality Thin upper lip vermilion Brachycephaly Abnormality of metabolism/homeostasis Neoplasm Thick upper lip vermilion Cavum septum pellucidum Single interphalangeal crease of fifth finger Tapered finger Abnormality of digit Partial agenesis of the corpus callosum External genital hypoplasia Molar tooth sign on MRI Diabetes insipidus Microretrognathia Finger clinodactyly Spontaneous abortion Dandy-Walker malformation Wide intermamillary distance Esotropia Retinal dystrophy Agyria Severe global developmental delay Coloboma Intellectual disability, moderate Hypothyroidism Micropenis Sensorineural hearing impairment Bitemporal hollowing Midline brain calcifications Type I lissencephaly Abnormality of upper lip Pelvic kidney Decerebrate rigidity Abnormality of the occipital bone Skull asymmetry Preaxial foot polydactyly Meningocele Calcaneal epiphyseal stippling Anomalous rib insertion to vertebrae Anomalous tracheal cartilage Absent soft palate Absent uvula Short hard palate Mandibular aplasia Hydranencephaly Porencephalic cyst Cleft soft palate 11 pairs of ribs Bell-shaped thorax Rib gap Anteriorly placed anus Neonatal respiratory distress Nasal speech Atresia of the external auditory canal Elbow flexion contracture Cerebral calcification Webbed neck Renal cyst Cough Gastroesophageal reflux Edema Posterior rib gap Paradoxical respiration Caudal appendage Supernumerary nipple Cranial asymmetry Epicanthus inversus Abnormal anterior chamber morphology Lambdoidal craniosynostosis Conjunctival telangiectasia Bilateral cleft lip and palate Short 5th finger Coronal craniosynostosis Bilateral cleft lip Broad foot Underdeveloped supraorbital ridges Spina bifida occulta Diarrhea Dental crowding Highly arched eyebrow Short foot Small hand Abnormality of eye movement Blepharophimosis Muscular hypotonia of the trunk Telecanthus Glaucoma Hypogonadism Depressivity Intellectual disability, mild Arachnoid cyst Hypoplasia of teeth Photophobia Hoarse voice Misalignment of teeth Cone-shaped epiphyses of the phalanges of the hand Short clavicles Atrioventricular canal defect Limited elbow extension Long fingers Short thorax Delayed cranial suture closure Flared metaphysis Melanocytic nevus Coarse hair Abnormality of the metaphysis Osteolytic defects of the phalanges of the hand Recurrent otitis media Osteoarthritis Renal hypoplasia Mitral valve prolapse Nevus Full cheeks Pulmonic stenosis Gait disturbance Pain Patent urachus Asymmetric crying face Hypoplastic scapulae Hypoplastic pelvis Perineal fistula Obtuse angle of mandible Hyperkeratosis Hyperhidrosis Dementia Severe short stature Alopecia Recurrent infections Dilatation Microphthalmia Immunodeficiency Myopia Anterior concavity of thoracic vertebrae Anisospondyly Abnormal cortical bone morphology Abnormality of the pubic bone Frontal hirsutism Hypoplastic facial bones Megacystis Urethral atresia Long neck Prune belly Ureteral stenosis Tricuspid valve prolapse Complete atrioventricular canal defect Craniofacial hyperostosis Small face Abnormal tracheobronchial morphology Potter facies Hypopigmentation of the fundus Ambiguous genitalia Right bundle branch block Bundle branch block Dextrocardia Tracheoesophageal fistula Triphalangeal thumb Hypoplasia of the radius Tachypnea Abnormality of the outer ear Situs inversus totalis Recurrent urinary tract infections Small nail Hypoplasia of penis Vertebral segmentation defect Renal agenesis Premature birth Tachycardia Anemia Pulmonary valve defects Intracranial cystic lesion Bifid distal phalanx of the thumb Duplication of thumb phalanx Duplication of phalanx of hallux Cerebral hypoplasia Abnormal pulmonary valve morphology Triangular mouth Hypoplastic left heart Non-midline cleft lip Abnormality of the gallbladder Cavernous hemangioma Hemifacial hypoplasia Absence of the sacrum Anorectal anomaly Abnormality of the intervertebral disk Lower limb undergrowth Vertebral clefting Laryngeal stenosis Abnormality of the nasopharynx Abnormal sacrum morphology Supernumerary ribs Tethered cord Ureteropelvic junction obstruction Abnormality of the sternum Abnormality of female internal genitalia Abnormality of the pancreas Atelectasis Tracheal stenosis Single umbilical artery Aplasia/Hypoplasia of the lungs Esophageal atresia Aplasia/Hypoplasia of the radius Absent radius Wheezing Occipital encephalocele Transposition of the great arteries Distal widening of metacarpals


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