Macrocephaly, and Congenital diaphragmatic hernia

Diseases related with Macrocephaly and Congenital diaphragmatic hernia

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

Top matches:

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

Other less relevant matches:

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

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

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.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Medium match PERLMAN SYNDROME

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

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 Macrocephaly 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
Hypertelorism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly 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

Cleft palate

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Inguinal hernia Low-set ears Posteriorly rotated ears Scoliosis Depressed nasal bridge Prominent occiput Short neck Wide nasal bridge Prominent forehead Umbilical hernia Midface retrusion Atrial septal defect Frontal bossing Flat face Abnormal facial shape Short nose Anteverted nares Polyhydramnios Broad forehead Hypospadias Polydactyly Wide anterior fontanel Abnormality of cardiovascular system morphology Sensorineural hearing impairment Agenesis of corpus callosum Micrognathia Proptosis Coloboma Telecanthus Abnormality of the pinna Wide mouth Intellectual disability, mild Large for gestational age Pulmonary hypoplasia Muscular hypotonia Epicanthus Accelerated skeletal maturation Tall stature Hearing impairment Downslanted palpebral fissures Ventriculomegaly Motor delay

Rare Symptoms - Less than 30% cases

Muscular hypotonia of the trunk Hydronephrosis Coarse facial features Macrotia Hydrocele testis Macroglossia Abnormal vertebral morphology Omphalocele Malar flattening Gastroesophageal reflux Myopia Smooth philtrum Deeply set eye Urogenital fistula Preaxial polydactyly Abnormality of the urinary system Hemivertebrae Neoplasm Long nose Multiple renal cysts Nephroblastoma Vesicoureteral reflux Neurodevelopmental delay Visceromegaly Open mouth Growth delay Abnormality of pancreas morphology Tented upper lip vermilion Obesity Hyperactivity Autism Enlarged kidney Hand polydactyly Ptosis High forehead Cardiomegaly Delayed speech and language development Cognitive impairment Infra-orbital crease Splenomegaly Partial agenesis of the corpus callosum Hepatomegaly Cerebral atrophy Confusion Hypoplasia of the corpus callosum Iris coloboma Relative macrocephaly Intestinal malrotation Long philtrum Congestive heart failure Respiratory insufficiency Intrauterine growth retardation Heterotopia Hydrocephalus Microcephaly Microretrognathia Short stature Macular hypoplasia Strabismus Joint hypermobility Aplasia/Hypoplasia of the corpus callosum Kyphoscoliosis Severe short stature Hyperlordosis Finger syndactyly Micropenis Cleft lip Postaxial polydactyly Dandy-Walker malformation Postaxial hand polydactyly Retinal dystrophy Abnormal cardiac septum morphology Ascites High, narrow palate Thick upper lip vermilion Anophthalmia Abdominal distention Dolichocephaly Thickened helices Round face Abnormality of the kidney Hypoxemia Specific learning disability Overgrowth Volvulus Global brain atrophy Abnormality of the cardiovascular system Renal dysplasia Hyperinsulinemia Polycystic kidney dysplasia Growth abnormality Bilateral single transverse palmar creases Hepatic fibrosis Hamartoma Status epilepticus Renal neoplasm Capillary hemangioma Lumbar hyperlordosis Polysplenia Language impairment Bilateral ptosis Hypoplasia of penis Unilateral renal agenesis Large fleshy ears Hepatosplenomegaly Prominent nasal bridge Delayed myelination Optic nerve coloboma Brain atrophy Short foot Short distal phalanx of finger Thin vermilion border Anal atresia Synophrys Neonatal hypotonia Narrow forehead Pulmonary artery atresia Chorioretinitis Brachycephaly Widely-spaced maxillary central incisors Upslanted palpebral fissure Hyporeflexia Patent ductus arteriosus Absent speech Focal-onset seizure Missing ribs Retrognathia Arnold-Chiari type I malformation Renal insufficiency Combined immunodeficiency Edema Respiratory distress Syringomyelia Severe combined immunodeficiency Hoarse cry Vertical nystagmus Limb hypertonia Choreoathetosis Anal stenosis Cystic hygroma Cupped ear Overfolded helix Focal impaired awareness seizure Patent foramen ovale Severe intrauterine growth retardation Amblyopia Pyloric stenosis Lumbar scoliosis Interrupted aortic arch Ureteral duplication Asymmetric growth Autistic behavior Abnormality of earlobe Blepharophimosis Attention deficit hyperactivity disorder Pseudohypoparathyroidism Otosclerosis Rhabdomyosarcoma Gonadoblastoma Anterior creases of earlobe Hemihypertrophy Diastasis recti Talipes Small hand Neonatal hypoglycemia Exocrine pancreatic insufficiency Prominent metopic ridge Polycythemia Choroideremia Hepatoblastoma Melanocytic nevus Abnormality of the shape of the midface Immunodeficiency Behavioral abnormality Dilatation Hypertension Feeding difficulties Recurrent infections Subchorionic septal cyst Large intestinal polyposis Adrenocortical cytomegaly Elevated alpha-fetoprotein Congenital megaureter Large placenta Posterior helix pit Branchial cyst Adrenocortical carcinoma Facial hemangioma EEG abnormality Leiomyosarcoma Neuroblastoma Redundant skin Aortic regurgitation Nephroblastomatosis Prominent xiphoid process Distal ileal atresia Ileal atresia Nephrogenic rest Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Narrow palpebral fissure Thymus hyperplasia Short toe Fetal ascites Abnormality of upper lip Microphthalmia Long upper lip Pancreatic islet-cell hyperplasia Broad alveolar ridges Intestinal atresia Femoral hernia Pointed chin Hypothyroidism Tapered finger Large fontanelles Hypercalciuria Arnold-Chiari malformation Renal cyst Underdeveloped nasal alae Renal agenesis Sleep apnea Nephrolithiasis Psychosis Prominent nose Mandibular prognathia Premature birth Nephropathy Long face Poor speech Neurological speech impairment Feeding difficulties in infancy Hypertrophic cardiomyopathy Hypoglycemia Nevus flammeus Sparse eyelashes Hypertonia Aminoaciduria Proximal tubulopathy Short sternum Bicornuate uterus Abnormality of the uterus Widow's peak Hypoplasia of the iris Severe sensorineural hearing impairment Epiphyseal dysplasia Prominent supraorbital ridges High myopia Low-molecular-weight proteinuria Progressive visual loss Broad nasal tip Retinal detachment Proteinuria Ventricular septal defect Cataract Rib segmentation abnormalities Abnormality of the odontoid process Block vertebrae Diaphragmatic eventration Non-acidotic proximal tubulopathy Abnormality of the intervertebral disk Cutaneous syndactyly Foot polydactyly Scaphocephaly Cutaneous finger syndactyly Abnormality of digit Delayed cranial suture closure Broad hallux Preaxial hand polydactyly Hyperglycemia Trigonocephaly Plagiocephaly Syndactyly Joint contracture of the hand Broad thumb Postural instability Hirsutism Toe syndactyly Hip dislocation Craniosynostosis Camptodactyly Abnormal heart morphology Cervical C2/C3 vertebral fusion Abnormality of female internal genitalia Abnormality of finger Nephronophthisis Lissencephaly Cholestasis Microdontia Bulbous nose Hepatic failure Facial asymmetry Cerebellar hypoplasia Optic atrophy Abnormality of the clavicle Molar tooth sign on MRI Communicating hydrocephalus Aplasia/Hypoplasia of the cerebellum Triphalangeal thumb Oculomotor apraxia Apraxia Ambiguous genitalia Sloping forehead Retinopathy Intellectual disability, severe Ataxia Cortical gyral simplification Abnormal cortical gyration Anomalous pulmonary venous return Scapular winging Rib fusion Disproportionate short-trunk short stature Meningocele Double outlet right ventricle Abnormality of the ureter Abnormality of immune system physiology Vertebral segmentation defect Short thorax Spina bifida occulta Spina bifida Colpocephaly Abnormal form of the vertebral bodies Abnormality of the ribs Camptodactyly of finger Respiratory tract infection Low-set, posteriorly rotated ears Respiratory failure Recurrent respiratory infections Kyphosis Periventricular gray matter heterotopia Severe hydrocephalus Postaxial foot polydactyly High anterior hairline Cerebellar atrophy Proportionate short stature Generalized osteoporosis Varicose veins Progeroid facial appearance Mild global developmental delay Periodontitis Atypical scarring of skin Gingivitis Genu recurvatum Short clavicles Curly hair Poor wound healing Atrophic scars Bowing of the legs Bilateral cryptorchidism Elbow dislocation Sparse eyebrow Lipodystrophy Radioulnar synostosis Hyperextensible skin Cutis laxa Small face Long toe Coxa valga Testicular torsion Tremor Hyperreflexia High palate Spasticity Nystagmus Palmoplantar cutis gyrata Abnormality of primary teeth Facial wrinkling Phalangeal dislocation Slender toe Dermal translucency Soft, doughy skin Large joint dislocations Prominent scalp veins Advanced ossification of carpal bones Flat forehead Absent earlobe Talipes equinovalgus Forearm undergrowth Ulnar bowing Joint dislocation Elbow flexion contracture Broad hallux phalanx Failure to thrive Osteopenia Narrow mouth Osteoporosis Alopecia Pectus excavatum Abnormality of the dentition Talipes equinovarus Skeletal muscle atrophy Flexion contracture 1-3 toe syndactyly Pes planus Duplication of the distal phalanx of hand 3-4 finger syndactyly Abnormality of calvarial morphology Camptodactyly of toe Abnormality of muscle fibers Metopic synostosis Cutaneous syndactyly of toes Medulloblastoma Preaxial foot polydactyly Skeletal dysplasia Abnormality of the nervous system Aortic valve stenosis Triangular face Sparse and thin eyebrow Bowing of the long bones Thin skin Sparse scalp hair Fine hair Cutaneous photosensitivity Blue sclerae Nevus Bifid uvula Single transverse palmar crease Joint laxity Bruising susceptibility Abnormality of skin pigmentation Arachnodactyly Joint hyperflexibility Pulmonic stenosis Narrow chest Hypermetropia Microtia Pectus carinatum Scarring Absent nasal bridge


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