Delayed speech and language development, and Congenital diaphragmatic hernia

Diseases related with Delayed speech and language development and Congenital diaphragmatic hernia

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


Top matches:

Medium match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

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

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Micrognathia


SOURCES: MONDO GARD OMIM UMLS

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Medium match GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS

Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated with pre- and postaxial polydactyly and variable syndactyly. The phenotype shows variable expressivity and can also include craniosynostosis. Affected individuals usually have normal psychomotor development (summary by Gorlin et al., 2001).

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS Is also known as polysyndactyly with peculiar skull shape;gcps

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism


SOURCES: NCIT ORPHANET UMLS OMIM DOID MONDO MESH GARD SCTID

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS

Medium match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1

Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1 Is also known as glycosylphosphatidylinositol biosynthesis defect 3;gpibd3;congenital disorder of glycosylation due to pign deficiency; pign-cdg

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO DOID UMLS GARD OMIM ORPHANET

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match CHROMOSOME 15q26-qter DELETION SYNDROME

Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.

CHROMOSOME 15q26-qter DELETION SYNDROME Is also known as drayer syndrome;15q26 deletion syndrome; distal 15q deletion syndrome; monosomy 15q26; telomeric 15q deletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: MONDO ORPHANET OMIM DOID MESH UMLS

More info about CHROMOSOME 15q26-qter DELETION SYNDROME

Medium match CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB

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.

CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB 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 NCIT MONDO SCTID MESH GARD

More info about CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB

Medium match WITTEVEEN-KOLK SYNDROME; WITKOS

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

WITTEVEEN-KOLK SYNDROME; WITKOS Is also known as ;del(15)(q24); monosomy 15q24

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM UMLS ORPHANET SCTID MESH DOID MONDO GARD

More info about WITTEVEEN-KOLK SYNDROME; WITKOS

Medium match CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL Is also known as distal chromosome 22q11.2 deletion syndrome;distal del(22)(q11.2); distal monosomy 22q11.2

Related symptoms:

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


SOURCES: MESH UMLS DOID OMIM MONDO ORPHANET

More info about CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL

Low match COFFIN-SIRIS SYNDROME 1; CSS1

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); and CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as coffin-siris syndrome;css, fifth digit syndrome, mental retardation, autosomal dominant 12;mrd12

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: OMIM MONDO

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Low match DIAPHRAGMATIC HERNIA, CONGENITAL

Congenital diaphragmatic hernia (CDH) refers to a group of congenital defects in the structural integrity of the diaphragm which are often associated with lethal pulmonary hypoplasia and pulmonary hypertension. Prevalence in newborns ranges from 1 in 2,500 to 1 in 4,000, and there is a 30 to 60% mortality rate (Langham et al., 1996; Harrison et al., 1994; Nobuhara et al., 1996). Most cases of congenital diaphragmatic hernia are sporadic. Genetic Heterogeneity of Diaphragmatic HerniaCongenital diaphragmatic hernia-1 (DIH1) maps to chromosome 15q26; DIH2 (OMIM ) maps to chromosome 8p23; and DIH3 (OMIM ) is associated with mutation in the ZFPM2 gene (OMIM ). There is evidence for further genetic heterogeneity, including a possible X-linked form (OMIM ).Congenital diaphragmatic hernia can also present with other congenital anomalies. Fryns syndrome (OMIM ) may be the most common autosomal recessive syndrome with DIH as a cardinal feature (Slavotinek et al., 2005).See Holder et al. (2007) for a review of genetic factors in congenital diaphragmatic hernia. Pober (2008) reviewed genetic aspects of congenital diaphragmatic hernia, with emphasis on various syndromes in which CDH occurs along with other manifestations.

DIAPHRAGMATIC HERNIA, CONGENITAL Is also known as dih, hernia, congenital diaphragmatic;hcd;cdh, diaphragmatic defect, congenital, diaphragm, unilateral agenesis of, hemidiaphragm, agenesis of;cdh

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Atrial septal defect
  • Respiratory distress


SOURCES: ORPHANET MONDO UMLS ICD10 SCTID OMIM

More info about DIAPHRAGMATIC HERNIA, CONGENITAL

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as cdl;cdls, typus degenerativus amstelodamensis, de lange syndrome, brachmann-de lange syndrome;bdls

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: NCIT OMIM

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Hernia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Delayed speech and language development and Congenital diaphragmatic hernia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cleft palate

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Pica

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Inguinal hernia

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Pulmonary hypoplasia Abnormality of the genital system Abnormality of digit Posteriorly rotated ears Autosomal dominant inheritance Hypospadias Autistic behavior Short stature Depressed nasal bridge Abnormality of the pinna Ventricular septal defect Retrognathia Motor delay Attention deficit hyperactivity disorder Abnormality of the skeletal system Clinodactyly Recurrent infections Postnatal growth retardation Patent ductus arteriosus Behavioral abnormality Toe syndactyly Downslanted palpebral fissures Ptosis Muscular hypotonia High palate Thin vermilion border Abnormal heart morphology Nystagmus Anteverted nares Small hand Single transverse palmar crease Prominent nasal bridge Smooth philtrum Thin upper lip vermilion Gastroesophageal reflux Low-set ears Short distal phalanx of finger Coarse facial features Macrotia Short nose Upslanted palpebral fissure Pyloric stenosis Long philtrum Ventriculomegaly Hypoplasia of the corpus callosum Pointed chin Hypertonia Scoliosis Wide mouth Feeding difficulties Hypoglycemia Blepharophimosis Micropenis Intellectual disability, severe Brachydactyly Small for gestational age Small nail Recurrent hypoglycemia Myopia Anal atresia Dilatation Immunodeficiency Hyperactivity Autism Broad forehead Tapered finger Abnormal cardiac septum morphology Synophrys Underdeveloped nasal alae Short neck Autosomal recessive inheritance Sporadic Cognitive impairment Epicanthus Choanal atresia Polydactyly Agenesis of corpus callosum Syndactyly Intellectual disability, mild Hirsutism Highly arched eyebrow Tics Macrocephaly Nevus High, narrow palate Aggressive behavior Microphthalmia Broad nasal tip Brachycephaly Muscular hypotonia of the trunk

Rare Symptoms - Less than 30% cases


Hypertrichosis Short middle phalanx of finger Short 5th finger Absent fingernail Vomiting Delayed skeletal maturation Respiratory tract infection Thick eyebrow Phimosis Short thumb Bicuspid aortic valve Long eyelashes Delayed eruption of teeth Short sternum Talipes Astigmatism Short philtrum Dislocated radial head Renal hypoplasia Ectopic kidney Cutis marmorata Hemangioma Malar flattening Joint laxity Obesity Short palm Arachnodactyly Long face Narrow palpebral fissure Polymicrogyria Hypermetropia Optic nerve coloboma Facial asymmetry Aortic regurgitation Joint hyperflexibility Abnormality of cardiovascular system morphology Severe global developmental delay Deeply set eye Narrow mouth Camptodactyly of finger Feeding difficulties in infancy Wide nose Sleep disturbance Coxa valga Clinodactyly of the 5th finger Preauricular skin tag Low posterior hairline Sepsis Pulmonic stenosis Renal cyst Conductive hearing impairment Recurrent respiratory infections Neoplasm Thick lower lip vermilion Sensorineural hearing impairment Thick upper lip vermilion Proximal placement of thumb Widely spaced teeth Sandal gap Growth hormone deficiency Microretrognathia Recurrent urinary tract infections Language impairment Severe short stature Partial agenesis of the corpus callosum Open mouth Spontaneous abortion Delayed myelination Vesicoureteral reflux Flat face Nephrotic syndrome Hydronephrosis Polyhydramnios Congenital onset Accelerated skeletal maturation Overfolded helix Confusion Hip dislocation Craniosynostosis Telecanthus Umbilical hernia High forehead Oxycephaly Frontal bossing Anophthalmia Abnormality of the urinary system Hand polydactyly Cupped ear Hydrocele testis Anal stenosis Talipes equinovarus Cystic hygroma Failure to thrive Large fleshy ears Spastic tetraparesis Anonychia Tetraparesis Sacral dimple Precocious puberty Elevated alkaline phosphatase Enlarged cisterna magna Spina bifida occulta Bicornuate uterus Generalized hirsutism Low anterior hairline Short palpebral fissure Sparse hair Dandy-Walker malformation Duodenal ulcer Hypoplastic fifth fingernail Severe expressive language delay Premature thelarche Facial hypertrichosis Intussusception Hypotrichosis of the scalp Generalized hypertrichosis Aplasia of the uterus Ectopic posterior pituitary Abnormality of the head Gastric ulcer Anterior pituitary hypoplasia Aplasia/Hypoplasia of the patella Rectal prolapse Patellar hypoplasia Hypoplastic left atrium Single umbilical artery Hypotrichosis Ankyloglossia Branchial fistula Bilateral choanal atresia Absent toenail Finger syndactyly Auricular tag Abnormality of earlobe Interrupted aortic arch Pain Recurrent bronchitis Truncus arteriosus Choanal stenosis Joint hypermobility Broad neck Bronchitis Visual impairment Kyphosis Sparse scalp hair Tetralogy of Fallot Prominent interphalangeal joints Tall stature Cerebellar vermis hypoplasia Decreased fetal movement Intestinal malrotation Hypotelorism Eczema Vertical nystagmus Thick vermilion border Hydrocephalus Genu valgum Bulbous nose Abnormality of the kidney Abdominal pain Hoarse cry Short distal phalanx of the 5th finger Short distal phalanx of the 5th toe Absent fifth fingernail Hiatus hernia Cavernous hemangioma Panhypopituitarism Esophagitis Abnormality of the gastrointestinal tract Oligodactyly Hypoplastic labia majora Ectrodactyly Hand oligodactyly Weak cry Hypoplastic nipples Hypopituitarism Tricuspid regurgitation Opisthotonus Self-injurious behavior Aspiration pneumonia Volvulus 2-3 toe syndactyly Hypertropia Abnormality of the umbilicus Reduced renal corticomedullary differentiation Duplication of internal organs Malrotation of colon Hypoplastic radial head Otitis media with effusion Projectile vomiting Peters anomaly Hypoplastic male external genitalia Esophageal stenosis Absent hand Curly eyelashes Supernumerary ribs Perimembranous ventricular septal defect Phocomelia Limited elbow extension Clubbing Lumbosacral hirsutism Anemia Glaucoma Pneumonia Thrombocytopenia Cardiomyopathy Fever Optic atrophy Posterolateral diaphragmatic hernia Proptosis Agenesis of the diaphragm Abnormality of the diaphragm Developmental stagnation Multifactorial inheritance Respiratory distress Ulnar deviation of finger Mandibular prognathia Proteinuria Incoordination Otitis media Deep philtrum Torticollis Short metatarsal Aspiration Hypoplasia of the radius Elbow flexion contracture Blue sclerae Hypertrophic cardiomyopathy High myopia Webbed neck Microcornea Downturned corners of mouth Micromelia Cleft upper lip Pallor Inverted nipples Aortic aneurysm Obsessive-compulsive behavior Hyporeflexia Missing ribs Syringomyelia Combined immunodeficiency Long nose Unilateral renal agenesis Bilateral ptosis Coarctation of aorta Severe intrauterine growth retardation Absent speech Prominent occiput Neonatal hypotonia Hemivertebrae Short toe Psychosis Arnold-Chiari type I malformation Multiple renal cysts Multicystic kidney dysplasia Cerebellar atrophy Spasticity Hyperreflexia Splenomegaly Hypogonadism Tremor Pes cavus Short 5th toe Severe combined immunodeficiency Absent nasal bridge Chorioretinitis Contiguous gene syndrome Widely-spaced maxillary central incisors Pulmonary artery atresia Cerebral atrophy Renal agenesis Cleft lip 1-3 toe syndactyly Mitral atresia Tented upper lip vermilion Low 1-minute APGAR score Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis 2-3 toe cutaneous syndactyly Aplasia cutis congenita over the scalp vertex Exodeviation Abnormal aortic arch morphology Amblyopia Decreased serum insulin-like growth factor 1 Short proximal phalanx of finger Bifid tongue Mitral stenosis Abnormal localization of kidney Generalized joint laxity Patent foramen ovale Macule Pruritus Brain atrophy Short foot Coloboma EEG abnormality Short finger Finger clinodactyly Focal seizures Flat occiput Hypertension Narrow forehead Midface retrusion Congestive heart failure Focal seizures with impairment of consciousness or awareness Athetosis Respiratory insufficiency Choreoathetosis Protruding ear Developmental regression Bowel incontinence Dysplastic corpus callosum Abnormality of the proximal phalanx of the thumb Medial flaring of the eyebrow Gastrointestinal atresia Conspicuously happy disposition Long palm Flared nostrils Anisocoria Preaxial hand polydactyly Toe clinodactyly Deep plantar creases Unilateral cryptorchidism Thick hair Intestinal atresia Thick nasal alae Broad hallux Cutaneous syndactyly Abnormality of nervous system morphology Limb hypertonia Hypoplastic left heart Oculomotor apraxia Postural instability Postaxial polydactyly Postaxial hand polydactyly Bowing of the long bones Broad thumb Trigonocephaly Premature birth Joint contracture of the hand Triangular face Hyperlordosis Abnormality of the dentition Pes planus Depressivity Wide nasal base Microphallus Duplication of the distal phalanx of hand Iris coloboma Cutaneous finger syndactyly Foot polydactyly Postaxial foot polydactyly Scaphocephaly Broad hallux phalanx Preaxial foot polydactyly Medulloblastoma Fine hair Cutaneous syndactyly of toes Abnormality of muscle fibers Camptodactyly of toe Partial duplication of thumb phalanx Metopic synostosis 3-4 finger syndactyly Large for gestational age Sparse and thin eyebrow High anterior hairline Abnormality of the outer ear Insomnia Overlapping fingers Hyperglycemia Slender finger Abnormality of the vasculature Preaxial polydactyly Abnormality of the thorax Narrow face Cafe-au-lait spot Radial deviation of finger Delayed cranial suture closure Abnormality of the voice Nasal speech Hoarse voice Bilateral single transverse palmar creases Dysplastic tricuspid valve


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Polydactyly, related diseases and genetic alterations Hepatomegaly and Tapered finger, related diseases and genetic alterations Hyperreflexia and Hypermetropia, related diseases and genetic alterations Low-set ears and Esotropia, related diseases and genetic alterations Muscle weakness and Aortic valve stenosis, related diseases and genetic alterations Anemia and Severe short stature, related diseases and genetic alterations