Hydrocephalus, and Intestinal malrotation

Diseases related with Hydrocephalus and Intestinal malrotation

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

Top matches:

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:

  • Hypertelorism
  • Epicanthus
  • Brachydactyly
  • Ventriculomegaly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

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

Other less relevant matches:

Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

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

VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see {192350}). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).

VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX Is also known as vacterl-h, x-linked

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ventricular septal defect
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MENDELIAN

More info about VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX

Medium match BOR SYNDROME

Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR 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, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

Medium 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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Intestinal malrotation

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Agenesis of corpus callosum Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Polycystic kidney dysplasia Pulmonary hypoplasia Micrognathia Low-set ears Hydronephrosis Ventriculomegaly Cleft lip Polydactyly Arnold-Chiari malformation Anal atresia Abnormality of the pinna Microphthalmia Macrocephaly Retrognathia Frontal bossing Iris coloboma Abnormal cardiac septum morphology Epicanthus Strabismus Atresia of the external auditory canal Cerebellar hypoplasia Renal agenesis Seizures Syndactyly Preaxial polydactyly High palate

Rare Symptoms - Less than 30% cases

Arteria lusoria Sensorineural hearing impairment Atrial septal defect Hypoplasia of the corpus callosum Pachygyria Downslanted palpebral fissures Ambiguous genitalia Postaxial hand polydactyly Motor delay Renal cyst Abnormal facial shape Ambiguous genitalia, male Hearing impairment Cupped ear Accessory spleen Renal hypoplasia Cerebellar vermis hypoplasia Abnormality of the larynx Astigmatism Coloboma Wide mouth Cleft upper lip Severe short stature Abnormality of the genital system Posteriorly rotated ears Urethral atresia Abnormality of the kidney Asplenia Intrauterine growth retardation Splenomegaly Partial agenesis of the corpus callosum Clinodactyly Oligohydramnios Talipes Microtia Renal dysplasia Hepatic fibrosis Renal hypoplasia/aplasia Multicystic kidney dysplasia Abnormal heart morphology Ventricular septal defect Abnormal cortical gyration Relative macrocephaly Lissencephaly Microretrognathia Microdontia Dandy-Walker malformation Bifid uvula Patent ductus arteriosus Ambiguous genitalia, female Depressed nasal bridge Respiratory insufficiency Growth delay Short stature Delayed speech and language development Telecanthus Thin vermilion border Thoracic dysplasia Aqueductal stenosis Short ribs Postaxial polydactyly Vesicoureteral reflux Oral cleft Micromelia Short nose Platyspondyly Narrow chest High forehead Horseshoe kidney Brachydactyly Toe syndactyly Preauricular skin tag Gingival fibromatosis Submucous cleft hard palate Lateral clavicle hook Osteopetrosis Large earlobe Median cleft lip and palate Horizontal ribs Abnormality of earlobe Abnormality of the nose Hamartoma of tongue Hypoplasia of the epiglottis Pancreatic fibrosis Dilatation Polysyndactyly of hallux Anomalous pulmonary venous return Short neck Shortening of the tibia Generalized osteosclerosis Cryptorchidism Disproportionate shortening of the tibia Postaxial polysyndactyly of foot Spondylometaphyseal dysplasia Feeding difficulties Dilation of lateral ventricles Hypermetropia Abnormal lacrimal duct morphology Incomplete partition of the cochlea type II Dilatated internal auditory canal Cholesteatoma Enlarged cochlear aqueduct Gustatory lacrimation Edema Brachycephaly Micropenis Skeletal dysplasia Craniosynostosis Pectus carinatum Retinal dystrophy Short tibia Hypoplastic nasal bridge Alveolar ridge overgrowth Hydrops fetalis Abnormality of cholesterol metabolism Tricuspid regurgitation Preaxial hand polydactyly Macrogyria Sloping forehead Total anomalous pulmonary venous return Mesomelia Median cleft lip Microglossia Webbed neck Absent septum pellucidum Hypotelorism Elevated amniotic fluid alpha-fetoprotein Limb undergrowth Polymicrogyria Arthrogryposis multiplex congenita Portal fibrosis Cerebellar dysplasia Abnormality of the renal collecting system Elevated alpha-fetoprotein Lobulated tongue Meningoencephalocele Neural tube defect Cerebral hypoplasia Urethral obstruction Hypoplasia of the bladder Olfactory lobe agenesis Cystic renal dysplasia Large placenta Occipital meningocele Craniorachischisis Nystagmus Low-set, posteriorly rotated ears Rigidity Failure to thrive Spasticity Narrow mouth Prominent forehead Clinodactyly of the 5th finger Hypertonia Flexion contracture Anteverted nares Status epilepticus Rhizomelia Coarctation of aorta External genital hypoplasia Omphalocele Encephalocele Talipes equinovarus Aplasia/Hypoplasia of the skin Bilateral talipes equinovarus Abnormality of neuronal migration Bowing of the long bones Metatarsus adductus Spina bifida Spontaneous abortion Radial deviation of finger Hydroureter Dermal atrophy Occipital encephalocele Joint contracture of the hand Aplasia/Hypoplasia of the corpus callosum Finger clinodactyly Natal tooth Anencephaly Abnormality of the ureter Foot polydactyly Muscle stiffness Increased bone mineral density Adrenal hypoplasia Meningocele Single umbilical artery Breech presentation Abnormality of the uterus Bile duct proliferation Abnormality of the cerebrum Bronchogenic cyst Lacrimal duct aplasia Ectopia pupillae Ptosis Cognitive impairment Wide nasal bridge Myopathy Deeply set eye Prominent nasal bridge Malabsorption Microcornea Prominent nose Short palpebral fissure Optic nerve hypoplasia Short columella Sclerocornea Duodenal atresia Sex reversal Exaggerated cupid's bow Peters anomaly Intestinal atresia Retinal vascular tortuosity Bilateral renal hypoplasia Hypoplastic iris stroma Jejunal atresia Corneal astigmatism Generalized hypotonia Optic atrophy Hernia Polyhydramnios Facial asymmetry Joint hypermobility Hepatic failure Cataract Optic disc hypoplasia Congenital diaphragmatic hernia Increased intracranial pressure Thin upper lip vermilion Cystic hygroma Hypoplastic ischia Vertebral wedging Respiratory distress Malar flattening Visual loss Proptosis Finger syndactyly Small hand Short foot Limitation of joint mobility Choanal atresia Broad thumb Laryngomalacia Prominent metopic ridge Tracheomalacia Short hallux Broad hallux phalanx Cloverleaf skull Hallux varus Deviation of the thumb Scoliosis Muscular hypotonia Intellectual disability, severe Upslanted palpebral fissure Generalized tonic-clonic seizures Synophrys Smooth philtrum Biparietal narrowing Bulbous nose Cholestasis Euthyroid goiter Stenosis of the external auditory canal Facial palsy Paralysis Long face Flat face Bilateral sensorineural hearing impairment Atrial fibrillation Narrow face Congenital hip dislocation Epiphora Preauricular pit Ectopic kidney Premature graying of hair Mixed hearing impairment External ear malformation Lacrimation abnormality Renal insufficiency Ureteropelvic junction obstruction Lacrimal duct stenosis Overbite Bilateral renal agenesis Abnormality of the middle ear ossicles Body odor Branchial cyst Branchial fistula Renal malrotation Cochlear malformation Hypoplasia of the cochlea Renal steatosis Bilateral renal dysplasia Unilateral renal hypoplasia Conductive hearing impairment Dysphagia Heterotopia Proximal placement of thumb Wide anterior fontanel Cortical gyral simplification Communicating hydrocephalus Colpocephaly Macular hypoplasia Severe hydrocephalus Periventricular gray matter heterotopia Abnormality of cardiovascular system morphology Dolichocephaly Pulmonic stenosis Short thumb Abnormal vertebral morphology Deep philtrum Hand polydactyly Tracheoesophageal fistula Myopia Double outlet right ventricle Isomerism Bilateral trilobed lungs Bilateral radial aplasia Persistent left superior vena cava Pancreatic hypoplasia Heterotaxy Broad neck Atrioventricular canal defect Enlarged kidney Esophageal atresia Absent radius Short humerus Transposition of the great arteries Abnormality of the vertebral column 2-4 toe syndactyly


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