Frontal bossing, and Intestinal malrotation

Diseases related with Frontal bossing and Intestinal malrotation

In the following list you will find some of the most common rare diseases related to Frontal bossing and Intestinal malrotation that can help you solving undiagnosed cases.

Top matches:

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44)|monosomy 1q44

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 1Q44 MICRODELETION 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

The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

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

Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.

CONGENITAL CONTRACTURAL ARACHNODACTYLY Is also known as distal arthrogryposis type 9|cca syndrome|contractural arachnodactyly, congenital|beals syndrome|beals-hecht syndrome|cca

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Micrognathia
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL CONTRACTURAL ARACHNODACTYLY

High match DESMOSTEROLOSIS

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects.The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986).The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (OMIM ) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.

OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome|gbbb syndrome|hypospadias-dysphagia syndrome|hypertelorism-hypospadias syndrome|opitz-g syndrome, type ii|telecanthus-hypospadias syndrome|g syndrome|opitz oculogenitolaryngeal syndrome, type ii|ogs2|opitz-frias syndrome|opitz gbbb syn

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE II; GBBB2

Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

SHPRINTZEN-GOLDBERG SYNDROME Is also known as sgs|marfanoid craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias|marfanoid disorder with craniosynostosis, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHPRINTZEN-GOLDBERG SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Intestinal malrotation

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Posteriorly rotated ears Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Intestinal malrotation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Prominent forehead

Uncommon Symptoms - Between 30% and 50% cases

Patent ductus arteriosus

Common Symptoms - More than 50% cases

Telecanthus

Uncommon Symptoms - Between 30% and 50% cases

Hydrocephalus

Common Symptoms - More than 50% cases

Agenesis of corpus callosum

Uncommon Symptoms - Between 30% and 50% cases

Strabismus

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Scoliosis Macrocephaly Micrognathia Ventriculomegaly Anteverted nares Hernia Cleft palate Ventricular septal defect High palate Atrial septal defect Syndactyly Cleft lip Pulmonary hypoplasia Coloboma Abnormal facial shape Abnormal heart morphology Iris coloboma Generalized hypotonia Oral cleft Seizures Inguinal hernia Muscular hypotonia Abnormal cardiac septum morphology Talipes equinovarus Ambiguous genitalia Abnormality of the pinna Splenomegaly Bifid uvula Pectus carinatum Cryptorchidism Metatarsus adductus Wide nasal bridge Talipes Dilatation Congenital diaphragmatic hernia Cleft upper lip Gastroesophageal reflux Aplasia/Hypoplasia of the corpus callosum Umbilical hernia Myopia Depressed nasal bridge Abnormality of cardiovascular system morphology Wide anterior fontanel Widow's peak Smooth philtrum Hearing impairment Dandy-Walker malformation Growth delay High forehead Prominent metopic ridge Microcephaly Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases

Conductive hearing impairment Omphalocele Aortic aneurysm Limb undergrowth Tracheoesophageal fistula Retinal dystrophy Short nose Proptosis Disproportionate tall stature Ptosis Slender finger Vesicoureteral reflux Posterior pharyngeal cleft Hepatomegaly Aortic root aneurysm Joint stiffness Abnormal vertebral morphology Ectopia lentis Cholestasis Abnormality of neuronal migration Joint laxity Osteopenia Camptodactyly of finger Brachycephaly Dolichocephaly Clinodactyly Arthrogryposis multiplex congenita Short neck Intellectual disability, severe Flexion contracture Retrognathia Arachnodactyly Mitral valve prolapse Microglossia Cranial asymmetry Interphalangeal joint contracture of finger Bicornuate uterus Mitral regurgitation Bowing of the long bones Partial agenesis of the corpus callosum Joint contracture of the hand Polydactyly Low-set, posteriorly rotated ears Camptodactyly Renal cyst Hypospadias Aplasia/Hypoplasia of the cerebellar vermis Hypoplasia of the corpus callosum Respiratory insufficiency Cerebellar hypoplasia Polyhydramnios Dysphagia High, narrow palate Joint hypermobility Failure to thrive Narrow chest Spasticity Craniosynostosis Macular hypoplasia Respiratory distress Abnormal cortical gyration Communicating hydrocephalus Nystagmus Relative macrocephaly Lissencephaly Microretrognathia Heterotopia Motor delay Pectus excavatum Feeding difficulties Constipation Aspiration Bilateral cleft lip Abnormality of the kidney Thin upper lip vermilion Recurrent urinary tract infections Intrauterine growth retardation Prominent nasal bridge Feeding difficulties in infancy Biparietal narrowing Anal atresia Bilateral cleft lip and palate Cerebellar vermis hypoplasia Apnea Single umbilical artery Pancreatic dysplasia Intrahepatic bile duct cysts Absent internal genitalia Bowing of the arm Horizontal ribs Rod-cone dystrophy Median cleft lip and palate Fetal ascites Abnormality of abdomen morphology Accessory spleen Periportal fibrosis Lobulated tongue Hamartoma of tongue Intellectual disability, mild Dystonia Intrahepatic biliary atresia Optic nerve coloboma Cerebral cortical atrophy Disproportionate short-limb short stature Holoprosencephaly Bilateral single transverse palmar creases Short ribs Short toe Abnormality of the hypothalamus-pituitary axis Renal hypoplasia Wide intermamillary distance Ascites Single transverse palmar crease Cholestatic liver disease Short foot Short palm Congenital hepatic fibrosis Abnormal pattern of respiration Flat face Multiple small medullary renal cysts Chronic hepatic failure Edema Brachydactyly Short long bone Patent foramen ovale Pancreatic cysts Protuberant abdomen Cystic renal dysplasia Atelectasis Neoplasm of the liver Bifid tongue Preaxial foot polydactyly Thoracic dysplasia Hypoplastic scapulae Broad foot Median cleft lip Anencephaly Preaxial polydactyly Hypoplastic nipples Natal tooth Broad palm Esophageal varix Milia Short thorax Bowing of the legs Metaphyseal irregularity Anophthalmia Short finger Ankyloglossia Micropenis Narrow palate Abnormality of the sternum Hammertoe Elbow dislocation Metaphyseal widening Hyperextensible skin Arnold-Chiari malformation Infantile muscular hypotonia Aortic regurgitation Amblyopia Thin ribs Abnormal form of the vertebral bodies Abnormality of the metaphysis Choanal atresia Blue sclerae Dental malocclusion Hypoplasia of the maxilla Joint hyperflexibility Genu valgum Abnormality of the foot Fragile skin Dislocated radial head Pes planus Lateral clavicle hook Minimal subcutaneous fat Hallux varus Abdominal wall muscle weakness Atlantoaxial dislocation Dural ectasia Arterial tortuosity Gastroparesis Supernumerary ribs Dermal translucency Anteriorly placed anus Abnormal aortic valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Spondylolisthesis Missing ribs Genu recurvatum Obstructive sleep apnea Shallow orbits Arnold-Chiari type I malformation Protruding ear Abnormality of the skeletal system Hydronephrosis Stridor Anal stenosis Abnormality of the ureter Limb dystonia Weak cry Prominent occiput Rocker bottom foot Bifid scrotum Oral-pharyngeal dysphagia Abnormality of the urinary system Hiatus hernia Recurrent upper respiratory tract infections Laryngomalacia Anosmia Cardiac arrest Hoarse voice Aortic valve stenosis Pulmonary arterial hypertension Coarctation of aorta Cough Tracheomalacia Megalencephaly Cognitive impairment Absent gallbladder Absent pulmonary artery Rectourethral fistula Rectal atresia Vascular ring Laryngeal cleft Short lingual frenulum Hypoplasia of the epiglottis Hoarse cry Metopic synostosis Diastasis recti Unilateral cleft lip Inspiratory stridor Nephronophthisis Dilated fourth ventricle Cavum septum pellucidum Sagittal craniosynostosis Concave nasal ridge Enlarged cisterna magna Abnormality of the respiratory system Occipital encephalocele Status epilepticus Molar tooth sign on MRI Severe sensorineural hearing impairment Low-molecular-weight proteinuria Infra-orbital crease Diaphragmatic eventration Proximal tubulopathy Short sternum Abnormality of the uterus Hypoplasia of the iris Long nose Pain Epiphyseal dysplasia Prominent supraorbital ridges Aminoaciduria High myopia Progressive visual loss Broad nasal tip Retinal detachment Non-acidotic proximal tubulopathy Fatigue Proteinuria Clubbing Esophageal atresia Distal arthrogryposis Hip contracture Ulnar deviation of finger Keratoconus Abnormality of the musculature Decreased muscle mass Congenital contracture Kyphosis Adducted thumb Bicuspid aortic valve Knee flexion contracture Elbow flexion contracture Chest pain Vertigo Kyphoscoliosis Arrhythmia Broad forehead Midface retrusion Megalocornea Optic atrophy Severe hydrocephalus Colpocephaly Cortical gyral simplification Microdontia Bulbous nose Hepatic failure Facial asymmetry Exaggerated cupid's bow Pneumonia Optic disc hypoplasia Horseshoe kidney Preauricular skin tag Thin vermilion border Synophrys Generalized tonic-clonic seizures Upslanted palpebral fissure Delayed speech and language development Periventricular gray matter heterotopia Hypodontia Malar flattening Right aortic arch Cataract Osteoma Exstrophy Recurrent aspiration pneumonia Bladder exstrophy Intestinal lymphangiectasia Abnormality of the nasopharynx Chylothorax Large fontanelles Abnormality of the pharynx Volvulus Pulmonary artery atresia Hydrocele testis Aspiration pneumonia Double outlet right ventricle Increased number of teeth Abnormality of the voice Scaphocephaly Patellar dislocation Aplasia/Hypoplasia of the cerebellum Visual impairment Abnormality of the nervous system Elevated hepatic transaminase Renal insufficiency Gait disturbance Tremor Hyperreflexia Hypertension Ataxia Abnormality of the eye 2-4 toe syndactyly Hypoplastic nasal bridge Alveolar ridge overgrowth Abnormality of cholesterol metabolism Macrogyria Ambiguous genitalia, female Total anomalous pulmonary venous return Intellectual disability, moderate Wide mouth Ambiguous genitalia, male Apraxia Chorioretinal coloboma Portal hypertension Chronic kidney disease Oculomotor apraxia Multicystic kidney dysplasia Hepatic fibrosis Encephalocele Postaxial hand polydactyly Abnormality of the liver Gastrointestinal hemorrhage Round face Highly arched eyebrow Nephropathy Cirrhosis Long face Stage 5 chronic kidney disease Abnormality of eye movement Abnormality of earlobe Gingival fibromatosis Abnormally large globe Abnormally folded helix Rigidity Narrow mouth Severe short stature Clinodactyly of the 5th finger Hypertonia Calf muscle hypoplasia Congenital kyphoscoliosis Crumpled ear Micromelia Patellar subluxation Iridodonesis Lens subluxation Spinal deformities Hypoplasia of the musculature Interrupted aortic arch Slender build Duodenal atresia Toe syndactyly Polymicrogyria Anomalous pulmonary venous return Bilateral talipes equinovarus Generalized osteosclerosis Abnormality of the nose Large earlobe Osteopetrosis Submucous cleft hard palate Absent septum pellucidum Aplasia/Hypoplasia of the skin Cupped ear Renal agenesis Dermal atrophy Renal hypoplasia/aplasia Finger clinodactyly Muscle stiffness Increased bone mineral density Rhizomelia Pachygyria Short stature C1-C2 vertebral abnormality


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