Feeding difficulties, and Congenital diaphragmatic hernia

Diseases related with Feeding difficulties and Congenital diaphragmatic hernia

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Congenital diaphragmatic hernia that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Other less relevant matches:

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME Is also known as pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|pancreatic agenesis and congenital heart defects|pachd|yorifuji-okuno syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Medium match KABUKI SYNDROME

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

KABUKI SYNDROME Is also known as kabuki make-up syndrome|niikawa-kuroki syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about KABUKI SYNDROME

Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.

COFFIN-SIRIS SYNDROME Is also known as css

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about COFFIN-SIRIS SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).

EAR-PATELLA-SHORT STATURE SYNDROME Is also known as microtia, absent patellae, micrognathia syndrome|meier-gorlin syndrome|eps|ear, patella, short stature syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EAR-PATELLA-SHORT STATURE SYNDROME

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Feeding difficulties and Congenital diaphragmatic hernia

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

Other less frequent symptoms

Patients with Feeding difficulties and Congenital diaphragmatic hernia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Short stature Scoliosis Ptosis High palate Depressed nasal bridge Wide nasal bridge Posteriorly rotated ears Micrognathia Hearing impairment Intrauterine growth retardation Abnormal facial shape Midface retrusion Low-set ears Wide mouth Obesity Joint hyperflexibility Long eyelashes Small hand Hemivertebrae Nystagmus Failure to thrive Inguinal hernia Blepharophimosis Myopia Microphthalmia Ventriculomegaly Abnormality of cardiovascular system morphology Sensorineural hearing impairment Epicanthus Respiratory distress Coloboma Gastroesophageal reflux Autism Muscular hypotonia Hyperactivity Feeding difficulties in infancy Generalized hypotonia

Rare Symptoms - Less than 30% cases

Small for gestational age Coarse facial features Pointed chin Hypertelorism Talipes Hypertension Abnormality of the dentition Abnormality of the skeletal system Atrial septal defect Cerebral atrophy Short philtrum Umbilical hernia Recurrent infections Abnormal cardiac septum morphology Hydronephrosis Hypoplasia of the corpus callosum Short neck Mandibular prognathia Hypospadias Narrow mouth Macrotia Renal hypoplasia/aplasia Micropenis Exocrine pancreatic insufficiency EEG abnormality Growth delay Ureteral duplication Hypoplasia of penis Microdontia Behavioral abnormality Joint laxity Abnormality of the outer ear Broad nasal tip Microcornea Macrocephaly Hydrocephalus Submucous cleft hard palate Brachycephaly Anophthalmia Camptodactyly Retrognathia Hypermetropia Elbow dislocation Bifid uvula Delayed speech and language development Short chin Microtia Coxa valga Multiple renal cysts Malar flattening Narrow palpebral fissure Short palpebral fissure Thick lower lip vermilion Aplasia/Hypoplasia of the patella Ventricular septal defect Respiratory failure Redundant skin Nephroblastoma Melanocytic nevus Hypogonadism Hypercalciuria Severe short stature Rhabdomyosarcoma Relative macrocephaly High forehead Prominent nose Pectus carinatum Camptodactyly of finger Craniosynostosis Postnatal growth retardation Cardiomegaly Omphalocele Arnold-Chiari malformation Large fontanelles Nephrolithiasis Tall stature Clinodactyly of the 5th finger Wide anterior fontanel Accelerated skeletal maturation Sleep apnea Dyspnea Neurodevelopmental delay Large for gestational age Anterior creases of earlobe Urogenital fistula Enlarged kidney Leiomyosarcoma Neonatal hypoglycemia Elevated alpha-fetoprotein Hepatoblastoma Nevus flammeus Adrenocortical carcinoma Diastasis recti Hemihypertrophy Choroideremia Asymmetric growth Abnormality of earlobe Otosclerosis Gonadoblastoma Facial hemangioma Infra-orbital crease Delayed skeletal maturation Large intestinal polyposis Clinodactyly Talipes equinovarus Prominent occiput Visceromegaly Frontal bossing Subchorionic septal cyst Neuroblastoma Polycythemia Branchial cyst Abnormality of the shape of the midface Adrenocortical cytomegaly Prominent metopic ridge Abnormality of pancreas morphology Congenital megaureter Large placenta Posterior helix pit Pseudohypoparathyroidism Bilateral talipes equinovarus Prominent nasal bridge Immunodeficiency Flat face Smooth philtrum Broad forehead Attention deficit hyperactivity disorder Autistic behavior Abnormality of the pinna Deeply set eye Polydactyly Dilatation Short nose Renal cyst Intellectual disability, mild Congestive heart failure Respiratory insufficiency Anteverted nares Motor delay Cognitive impairment Morgagni diaphragmatic hernia Absent glenoid fossa Incomplete partition of the cochlea type II Tapered finger Underdeveloped nasal alae Microtia, third degree Syringomyelia Widely-spaced maxillary central incisors Chorioretinitis Pulmonary artery atresia Optic nerve coloboma Hydrocele testis Missing ribs Severe intrauterine growth retardation Arnold-Chiari type I malformation Severe combined immunodeficiency Long nose Renal agenesis Combined immunodeficiency Unilateral renal agenesis Language impairment Hand polydactyly Bilateral ptosis Pyloric stenosis Aortic regurgitation Microretrognathia Short toe Psychosis Flat glenoid fossa Short ear Arthrogryposis multiplex congenita Short ribs Severe hearing impairment Emphysema Vesicoureteral reflux Mild short stature Clitoral hypertrophy Atresia of the external auditory canal Abnormality of pelvic girdle bone morphology Genu varum Increased body weight Joint contracture of the hand Disproportionate short stature Abnormality of epiphysis morphology Thin skin Abnormality of the ribs Specific learning disability Hypoplasia of the maxilla High, narrow palate Thick vermilion border Short palm Joint hypermobility Genu valgum Slender long bone Thin ribs Absent sternal ossification Aplastic clavicle Abnormality of the patella Small anterior fontanelle Mandibular aplasia Birth length less than 3rd percentile Hypoplastic labia minora Clitoral hypoplasia Hyperconvex nail Breast aplasia Epispadias Lateral clavicle hook Cutaneous finger syndactyly Osteochondritis Dissecans Unilateral cryptorchidism Breast hypoplasia Anotia Patellar aplasia Breech presentation Hypoplastic labia majora Narrow nose Aseptic necrosis Shawl scrotum Premature birth Butterfly vertebrae Macroglossia Hepatitis Transposition of the great arteries Glycosuria Hyperglycemia Patent foramen ovale Hyperbilirubinemia Cardiac arrest Oligohydramnios Tetralogy of Fallot Pulmonary artery stenosis Intestinal malrotation Gliosis Pulmonic stenosis Elevated hepatic transaminase Neonatal hypotonia Diabetes mellitus Abnormal heart morphology Patent ductus arteriosus Congenital hypothyroidism Truncus arteriosus Abnormality of the breast Neonatal insulin-dependent diabetes mellitus Hypoplastic tricuspid valve Double outlet left ventricle Pancreatic aplasia Hypoplasia of right ventricle Anterior pituitary agenesis Aplasia/Hypoplasia of the gallbladder Left-to-right shunt Microcolon Single umbilical artery Intermittent diarrhea Pancreatic hypoplasia Cervical ribs Biliary atresia Perimembranous ventricular septal defect Interrupted aortic arch Prolonged partial thromboplastin time Mild microcephaly Abnormal lacrimal duct morphology Premature atrial contractions Colon perforation Granulocytopenia Pulmonary hypoplasia Severe global developmental delay Sparse hair Muscular hypotonia of the trunk Dystonia Spasticity Mandibulofacial dysostosis Broad neck Chorea Severe sensorineural hearing impairment Macrocytic anemia Mixed hearing impairment Sparse eyebrow Sparse and thin eyebrow Webbed neck Downslanted palpebral fissures Anemia Wide nose Tetraparesis Female infertility Holoprosencephaly Unilateral ptosis Epicanthus inversus Congenital ptosis Increased circulating gonadotropin level Short finger Hypoplasia of the uterus Cupped ear Premature ovarian insufficiency Abnormality of the hair Spastic tetraparesis Primary amenorrhea Narrow forehead Amenorrhea Infertility Synophrys Telecanthus Hypoplastic left atrium Bicornuate uterus Congenital defect of the pericardium Total absence of the pericardium Nephropathy Short distal phalanx of finger Cutis marmorata Aplasia/Hypoplasia of the cerebellum Spina bifida occulta Generalized hirsutism Bilateral single transverse palmar creases Depressed nasal ridge Dandy-Walker malformation Thick eyebrow Abnormality of the hip bone Recurrent respiratory infections Kyphosis Cataract Eversion of lateral third of lower eyelids Lip pit Crossed fused renal ectopia Vertebral clefting Duplicated collecting system Ectopic kidney Partial agenesis of the corpus callosum Abnormal localization of kidney Splenomegaly Long face Poor speech Neurological speech impairment Hypertrophic cardiomyopathy Hypoglycemia Polyhydramnios Hypothyroidism Proptosis Hepatomegaly Abnormality of the clavicle Neoplasm Aplasia/Hypoplasia of the distal phalanx of the 5th finger Aplasia/Hypoplasia of the distal phalanx of the 5th toe Hypoplastic fifth fingernail Hypoplastic fifth toenail Abnormality of the intervertebral disk Slow-growing hair Lacrimation abnormality Ureteropelvic junction obstruction Sparse lateral eyebrow Brachydactyly Focal-onset seizure Self-injurious behavior Focal impaired awareness seizure Abnormal electroretinogram Cone/cone-rod dystrophy Cerebral visual impairment Open mouth Bilateral sensorineural hearing impairment Delayed myelination Facial hypotonia Downturned corners of mouth Iris coloboma Astigmatism Thin upper lip vermilion Rod-cone dystrophy Constipation Blindness Optic atrophy Abnormality of visual evoked potentials Hypoglycemic seizures Short 5th finger Preauricular skin tag Short columella Abnormality of immune system physiology Short middle phalanx of finger Mask-like facies Abnormality of dental morphology Precocious puberty Widely spaced teeth Abnormal dermatoglyphics Abnormal form of the vertebral bodies Cerebral cortical atrophy Blue sclerae Coarctation of aorta Hypodontia Highly arched eyebrow Oral cleft Hip dislocation Protruding ear Conductive hearing impairment Absent nasal bridge


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Palmoplantar keratoderma, related diseases and genetic alterations