Generalized hypotonia, and Congenital diaphragmatic hernia

Diseases related with Generalized hypotonia and Congenital diaphragmatic hernia

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

Top matches:

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

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

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Other less relevant matches:

Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

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

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

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, teebi type|teebi syndrome|teebi hypertelorism syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERTELORISM, TEEBI TYPE

Medium 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

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Hernia Very Common - Between 80% and 100% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Cryptorchidism Micrognathia Pulmonary hypoplasia Short stature Wide nasal bridge Ventricular septal defect Cleft lip Atrial septal defect Hearing impairment Brachycephaly Inguinal hernia Joint laxity Long philtrum Strabismus Short neck Micropenis Downslanted palpebral fissures Coloboma Hydronephrosis Oral cleft Umbilical hernia Abnormality of the pinna Sensorineural hearing impairment Hypospadias Growth delay Hypoplasia of the corpus callosum Cleft palate Patent ductus arteriosus Broad nasal tip Hydrocephalus

Rare Symptoms - Less than 30% cases

Abnormality of the kidney Microretrognathia Convex nasal ridge Tetralogy of Fallot Abnormality of cardiovascular system morphology Blepharophimosis Thin upper lip vermilion Midface retrusion Hypermetropia Gastroesophageal reflux Respiratory failure Emphysema Abnormal heart morphology Dilatation Bilateral sensorineural hearing impairment Respiratory distress Cutis laxa Frontal bossing Omphalocele Craniosynostosis Posteriorly rotated ears Iris coloboma Intestinal malrotation Preaxial polydactyly Abnormality of the genitourinary system Seizures Ptosis Clinodactyly Bulbous nose Optic atrophy Joint hypermobility Highly arched eyebrow Proptosis Prominent forehead Pectus excavatum Brachydactyly High palate Flexion contracture Microcephaly Shawl scrotum Edema Retrognathia Sparse hair Anophthalmia Sloping forehead Bicornuate uterus Respiratory insufficiency Muscular hypotonia of the trunk Wide nose Hypoplastic left atrium Polyhydramnios Microphthalmia Molar tooth sign on MRI Short chin Macrocephaly Feeding difficulties Postaxial polydactyly Polydactyly Wide anterior fontanel Dandy-Walker malformation Diaphragmatic eventration Diastasis recti Bilateral cleft lip and palate Bilateral microphthalmos Abnormality of the uterus Epicanthus Duodenal stenosis Abnormality of the diaphragm Truncus arteriosus Annular pancreas Short 5th finger Overriding aorta Bilateral cleft lip Single ventricle Pelvic kidney Renal malrotation Pulmonary artery atresia Horseshoe kidney Hiatus hernia Pectus carinatum Facial hypotonia Hypoglycemic seizures Failure to thrive Muscular hypotonia Urethral valve Intrauterine growth retardation Caudal appendage Severe short stature Penoscrotal hypospadias Camptodactyly Protruding ear Pulmonic stenosis Hypoplasia of the uterus Vesicoureteral reflux Epicanthus inversus Coarctation of aorta Intellectual disability, profound Renal hypoplasia Skin dimples Abnormal lung morphology Abnormality of the genital system Bilateral lung agenesis Bilateral conductive hearing impairment Optic nerve hypoplasia Rocker bottom foot Pulmonary artery hypoplasia Abnormal spleen morphology Right aortic arch with mirror image branching Talipes Ectopic kidney Wormian bones High hypermetropia Long palpebral fissure Broad palm Natal tooth Renal agenesis Self-injurious behavior Sprengel anomaly Small hand Cleft upper lip Lipoma Postnatal growth retardation Bilateral cryptorchidism Intellectual disability, moderate Widow's peak Telecanthus Conductive hearing impairment Depressivity Abnormality of the helix Advanced eruption of teeth Dimple chin Broad eyebrow Female pseudohermaphroditism Scoliosis Cognitive impairment Preauricular pit Heart murmur Mild intrauterine growth retardation Thick eyebrow Aplasia/Hypoplasia of the pancreas Hypoplastic spleen Congestive heart failure Agenesis of pulmonary vessels Broad foot Short nose Arrhythmia Clinodactyly of the 5th finger Irregular vertebral endplates Prominent nasal bridge Finger syndactyly Thin vermilion border Everted lower lip vermilion Deep philtrum Facial cleft Round face Supernumerary nipple Bifid scrotum Elbow dislocation Epiphyseal dysplasia Radioulnar synostosis Scrotal hypoplasia Spontaneous abortion Short toe Finger clinodactyly Atrioventricular block Abnormality of visual evoked potentials Facial asymmetry Focal impaired awareness seizure Large fontanelles Hydrops fetalis Short ribs Thoracic hypoplasia Anencephaly Upper limb undergrowth Thoracic dysplasia Retinal coloboma Aplastic clavicle Short upper lip Malar flattening Macrotia Recurrent urinary tract infections Sandal gap Polymicrogyria Laryngomalacia Pyloric stenosis Patent foramen ovale Prematurely aged appearance Tracheomalacia Pulmonary artery stenosis Premature skin wrinkling Peripheral pulmonary artery stenosis Bladder diverticulum Periorbital edema Rectal prolapse Bronchomalacia Cerebellar vermis hypoplasia Micromelia Arachnodactyly Postaxial hand polydactyly Spasticity Delayed speech and language development Dystonia Severe global developmental delay Chorea Tetraparesis Short palpebral fissure Spastic tetraparesis Ataxia Intellectual disability, severe Retinopathy Retinal dystrophy Ambiguous genitalia Narrow chest Apraxia Tall stature Oculomotor apraxia Aplasia/Hypoplasia of the corpus callosum Triphalangeal thumb Aplasia/Hypoplasia of the cerebellum Prominent occiput Nephronophthisis Abnormality of the clavicle Abnormality of the skeletal system Hyporeflexia Agenesis of corpus callosum Scarring Recurrent fractures Abnormal electroretinogram Hyperactivity Communicating hydrocephalus Abnormal cortical gyration Colpocephaly Macular hypoplasia Severe hydrocephalus Periventricular gray matter heterotopia Myopia Blindness Behavioral abnormality Cerebral atrophy Constipation Rod-cone dystrophy Narrow mouth Relative macrocephaly Autism Mandibular prognathia Short philtrum Astigmatism Downturned corners of mouth Delayed myelination Focal-onset seizure Open mouth Cerebral visual impairment Pointed chin Abnormality of the outer ear Cone/cone-rod dystrophy Cortical gyral simplification Lissencephaly Overgrowth Biventricular hypertrophy Oligohydramnios Bradycardia Spina bifida Joint dislocation Narrow palpebral fissure Aortic aneurysm Aortic root aneurysm Soft skin Abnormality of the vasculature Arterial stenosis Pulmonary insufficiency Narrow naris Arterial tortuosity Heterotopia Intussusception Multiple joint dislocation Prominence of the premaxilla Pulmonary artery aneurysm Generalized arterial tortuosity Pulmonary artery dilatation Motor delay Ventriculomegaly Cerebellar hypoplasia Abnormal cardiac septum morphology Hepatic failure Microdontia Cholestasis Prominent coccyx


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