Generalized hypotonia, and Omphalocele

Diseases related with Generalized hypotonia and Omphalocele

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

Top matches:

Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY Is also known as isolated thyrotropin deficiency|thyrotropin deficiency, isolated|pituitary cretinism|isolated tsh deficiency|tsh deficiency|thyroid-stimulating hormone deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Depressed nasal bridge
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY

Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

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 2; 3MC2 Is also known as ptosis of eyelids with diastasis recti and hip dysplasia|oculo-skeletal-abdominal syndrome|carnevale syndrome, formerly|osa syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 3MC SYNDROME 2; 3MC2

Other less relevant matches:

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

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

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

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

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

High match CODAS SYNDROME

Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.

CODAS SYNDROME Is also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebrooculodentoauriculoskeletal syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CODAS SYNDROME

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Omphalocele

Symptoms // Phenotype % cases
Epicanthus Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Umbilical hernia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Omphalocele. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hernia

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect

Common Symptoms - More than 50% cases

Ptosis

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Postnatal growth retardation Cleft palate Abnormal heart morphology Craniosynostosis Short stature Diastasis recti Atrial septal defect Cleft upper lip Patent ductus arteriosus Cleft lip Telecanthus Conductive hearing impairment Hypospadias Wide nasal bridge Strabismus Abnormality of the skeletal system Highly arched eyebrow Clinodactyly Brachydactyly Wide anterior fontanel Clinodactyly of the 5th finger Scoliosis Short 5th finger Micrognathia Cognitive impairment Downslanted palpebral fissures Prominent occiput Caudal appendage Depressivity Epicanthus inversus Bilateral conductive hearing impairment Muscular hypotonia of the trunk Bilateral cleft lip and palate Blepharophimosis Bilateral cleft lip Nystagmus Broad forehead Broad foot Supernumerary nipple Radioulnar synostosis Small hand Abnormality of cardiovascular system morphology Finger syndactyly Frontal bossing Seizures Microcephaly Abnormality of the pinna Intellectual disability, moderate Congenital diaphragmatic hernia Short nose Oral cleft Hypothyroidism Ventriculomegaly Macrocephaly Micropenis Depressed nasal bridge Coarse facial features

Rare Symptoms - Less than 30% cases

Short toe Congestive heart failure Short humerus Shawl scrotum High hypermetropia Short chin Finger clinodactyly Neurodevelopmental delay Spontaneous abortion Everted lower lip vermilion Thin vermilion border Hypermetropia Joint laxity Hydronephrosis Proptosis Prominent forehead Pectus excavatum Long philtrum Macroglossia Abnormality of dental morphology Epiphyseal dysplasia Preaxial polydactyly Nephropathy High palate Hypertension Hypoplasia of the corpus callosum Abnormality of the dentition Short philtrum Anal atresia Retinal dystrophy Prominent metopic ridge Redundant skin Rectovaginal fistula Polyhydramnios Large fontanelles Muscular hypotonia Anteverted nares Inguinal hernia Hepatomegaly Joint hyperflexibility Microdontia Hypoplasia of dental enamel Failure to thrive Intellectual disability, severe Abnormality of dental enamel Growth hormone deficiency Sensorineural hearing impairment Tetralogy of Fallot Polydactyly Cupped ear Postaxial polydactyly Tapered finger Prominent nasal bridge Hypogonadism Arnold-Chiari malformation Pseudohypoparathyroidism Vesicoureteral reflux Hip dislocation Protruding ear Abnormal cardiac septum morphology Renal insufficiency Wormian bones Intracranial cystic lesion Bifid distal phalanx of the thumb Delayed skeletal maturation Duplication of thumb phalanx Pulmonary valve defects Cerebral hypoplasia Atrioventricular canal defect Abnormal pulmonary valve morphology Triangular mouth Hypopigmentation of the fundus Hypoplasia of teeth Duplication of phalanx of hallux Osteoporosis Myopia Metaphyseal dysplasia Preaxial foot polydactyly Respiratory failure High forehead Photophobia Hypoplasia of the odontoid process Sparse hair Extrahepatic biliary duct atresia Dolichocephaly Narrow chest Stage 5 chronic kidney disease Hydroureter Anencephaly Postaxial foot polydactyly Agenesis of corpus callosum Toe syndactyly Severe global developmental delay Coloboma Apnea Retrognathia Posteriorly rotated ears Cerebellar hypoplasia Smooth philtrum Cerebral atrophy Syndactyly Overfolded helix Short long bone Optic atrophy CNS hypomyelination Abnormality of pelvic girdle bone morphology Proximal placement of thumb Bifid uvula Arachnoid cyst Diabetes insipidus Short distal phalanx of finger Spondyloepiphyseal dysplasia Abnormality of digit Partial agenesis of the corpus callosum External genital hypoplasia Laryngeal obstruction Molar tooth sign on MRI Preaxial hand polydactyly Esotropia Aplasia/Hypoplasia of the corpus callosum Microretrognathia Preauricular skin tag Open mouth Postaxial hand polydactyly Dandy-Walker malformation Wide intermamillary distance Hepatic failure Ectodermal dysplasia High, narrow palate Hip dysplasia Thin eyebrow Broad toe Tubulointerstitial abnormality Coronal cleft vertebrae Short metacarpal Complete atrioventricular canal defect Short nail Incisional hernia Interstitial pneumonitis Thin nail Flattened epiphysis Abnormality of the abdominal wall Abnormal diaphysis morphology Abnormality of the larynx Renal magnesium wasting Generalized muscle weakness Sagittal craniosynostosis Cataract Lumbar scoliosis Delayed speech and language development Midline defect of the nose Congenital cataract Genu valgum Hemiatrophy Squared iliac bones Delayed ossification of carpal bones Flat face Malformation of the hepatic ductal plate Vocal cord paresis Broad distal phalanges of all fingers Delayed eruption of teeth Pes valgus Hypoplastic helices Hepatic cysts Slow-growing hair Single transverse palmar crease Hepatic fibrosis Widely spaced teeth Cutis laxa Abnormality of the fingernails Delayed epiphyseal ossification Hypocalcemia Short ribs Rhizomelia Chronic kidney disease Abnormality of the metaphysis Fine hair Hypotelorism Limb undergrowth Pneumonia Full cheeks Hypodontia Bicuspid aortic valve Radial deviation of finger Abnormal form of the vertebral bodies Protuberant abdomen Abnormal toenail morphology Elevated serum creatinine Anodontia Tubulointerstitial nephritis Taurodontia Scaphocephaly Fibular hypoplasia Drooling Abnormality of epiphysis morphology Short phalanx of finger Broad skull Bilateral ptosis Crumpled ear Thoracic hypoplasia Congenital hip dislocation Short thorax Mandibular prognathia Ataxia Broad nasal tip Ectopic kidney Preauricular pit Bilateral cryptorchidism Heart murmur Deep philtrum Atrioventricular block Round face Wide nose Broad palm Thick eyebrow Thin upper lip vermilion Brachycephaly Arrhythmia Short neck Partial abdominal muscle agenesis Prominence of the premaxilla Long palpebral fissure Natal tooth Limited elbow movement Abnormality of the kidney Facial cleft Bifid scrotum Elbow dislocation Abnormality of the genitourinary system Scrotal hypoplasia Renal agenesis Talipes Edema Sprengel anomaly Female pseudohermaphroditism Broad eyebrow Dimple chin Advanced eruption of teeth Abnormality of the helix Widow's peak Lipoma Esodeviation Hypoplasia of the musculature Skin dimples Congenital hypothyroidism Craniopharyngioma Hypothalamic hypothyroidism Narcolepsy Hoarse cry Pituitary hypothyroidism Severe postnatal growth retardation Hypopituitarism Intellectual disability, progressive Astigmatism Abdominal distention Sleep disturbance Jaundice Constipation Abnormality of metabolism/homeostasis Fatigue Feeding difficulties Upslanted palpebral fissure Postural instability Broad philtrum Joint hypermobility Depressed nasal tip Abnormality of the vertebral column Ectropion Torticollis Horseshoe kidney Abnormal vertebral morphology Downturned corners of mouth Gait imbalance Ambiguous genitalia Flat acetabular roof Short clavicles Anteriorly placed anus Short femoral neck Trigonocephaly Short palpebral fissure Coarctation of aorta Irregular vertebral endplates Penoscrotal hypospadias Subchorionic septal cyst Neonatal hypoglycemia Rhabdomyosarcoma Ureteral duplication Visceromegaly Gonadoblastoma Hemihypertrophy Multiple renal cysts Nevus flammeus Enlarged kidney Abnormality of earlobe Exocrine pancreatic insufficiency Polycythemia Neuroblastoma Large for gestational age Melanocytic nevus Nephroblastoma Hypercalciuria Otosclerosis Asymmetric growth Sleep apnea Branchial cyst Large intestinal polyposis Abnormality of the shape of the midface Adrenocortical cytomegaly Abnormality of pancreas morphology Congenital megaureter Large placenta Posterior helix pit Infra-orbital crease Choroideremia Adrenocortical carcinoma Facial hemangioma Urogenital fistula Leiomyosarcoma Elevated alpha-fetoprotein Hepatoblastoma Anterior creases of earlobe Relative macrocephaly Accelerated skeletal maturation Urethral valve Spina bifida occulta Cranial asymmetry Abnormal anterior chamber morphology Lambdoidal craniosynostosis Conjunctival telangiectasia Coronal craniosynostosis Underdeveloped supraorbital ridges Sacral dimple Spina bifida Single interphalangeal crease of fifth finger Dental crowding Short foot Abnormality of eye movement Glaucoma Intellectual disability, mild Diarrhea Prominent coccyx Skull asymmetry Abnormality of the occipital bone Tall stature Wide mouth Nephrolithiasis Cardiomegaly Prominent nose Premature birth Long face Poor speech Neurological speech impairment Feeding difficulties in infancy Neoplasm Hypertrophic cardiomyopathy Hypoglycemia Autism Hyperactivity Obesity Midface retrusion Splenomegaly Absent epiphyses


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Low-set, posteriorly rotated ears, related diseases and genetic alterations Macrocephaly and Toe syndactyly, related diseases and genetic alterations Myopathy and Aortic valve stenosis, related diseases and genetic alterations Epicanthus and Hypoplasia of the corpus callosum, related diseases and genetic alterations Cleft palate and Acute myeloid leukemia, related diseases and genetic alterations Generalized hypotonia and Craniosynostosis, related diseases and genetic alterations