Hypertelorism, and Intestinal malrotation

Diseases related with Hypertelorism and Intestinal malrotation

In the following list you will find some of the most common rare diseases related to Hypertelorism 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

Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.

SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME Is also known as ssm syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME

Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

Other less relevant matches:

HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

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

Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

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

Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 3

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

Symptoms // Phenotype % cases
Cleft palate Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Toe syndactyly Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anal atresia Seizures Intellectual disability Preaxial polydactyly Finger syndactyly Hydronephrosis High forehead Microcephaly Micrognathia Broad thumb Agenesis of corpus callosum Choanal atresia High palate Polydactyly Syndactyly Ventriculomegaly

Rare Symptoms - Less than 30% cases

Depressed nasal bridge Short nose Proptosis Duodenal atresia Cerebellar hypoplasia Abdominal distention Small hand Short foot Limitation of joint mobility Respiratory distress Broad hallux phalanx Epicanthus Cataract Wide nasal bridge Optic nerve coloboma Microcornea Iris coloboma Coloboma Microphthalmia Ptosis Horseshoe kidney Increased intracranial pressure Vesicoureteral reflux Short stature Hallux varus Aqueductal stenosis Short hallux Tracheomalacia Laryngomalacia Smooth philtrum Arnold-Chiari malformation Patent ductus arteriosus Scoliosis Diarrhea Ventricular septal defect Macrocephaly Strabismus Failure to thrive Vomiting Carcinoma Medulloblastoma Foot polydactyly Micromelia Arnold-Chiari type I malformation Chronic constipation Oral cleft Respiratory insufficiency Anterior plagiocephaly Cutaneous finger syndactyly Cutaneous syndactyly of toes Hemimegalencephaly Duplication of thumb phalanx Abnormality of thumb phalanx Brachydactyly Abnormality of metabolism/homeostasis Acidosis Polyhydramnios Anal stenosis Narrow chest Craniosynostosis Abnormality of the skin Blepharophimosis Platyspondyly Facial asymmetry Polymicrogyria Hirsutism Cleft lip Thin upper lip vermilion Horizontal nystagmus Brachycephaly Generalized hirsutism Narrow palpebral fissure Hypopigmented skin patches Bilateral ptosis Preaxial hand polydactyly Basal cell carcinoma Single transverse palmar crease Aplasia/Hypoplasia of the skin Abnormality of the liver Bifid uvula Metabolic acidosis Intestinal atresia Cerebellar vermis hypoplasia Renal hypoplasia Short palpebral fissure Optic nerve hypoplasia Short columella Sclerocornea Ectopia pupillae Sex reversal Peters anomaly Accessory spleen Astigmatism Retinal vascular tortuosity Bilateral renal hypoplasia Hypoplastic iris stroma Jejunal atresia Corneal astigmatism Hearing impairment Midface retrusion Amblyopia Stenosis of the external auditory canal Prominent nose Malabsorption Exaggerated cupid's bow Rectovaginal fistula Gastrointestinal hemorrhage Abnormal intestine morphology Cutis laxa Hyponatremia Keratitis Preauricular pit Mild short stature Abnormality of digit Corneal erosion Villous atrophy Prominent nasal bridge Ureteral duplication Protracted diarrhea Secretory diarrhea Intractable diarrhea Cognitive impairment Myopathy Deeply set eye Abnormality of the pinna Wide mouth Nystagmus Preauricular skin tag Optic disc hypoplasia Double outlet right ventricle Oligohydramnios Cardiomegaly Situs inversus totalis Holoprosencephaly Dextrocardia Ciliary dyskinesia Transposition of the great arteries Abnormal lung lobation Myelomeningocele Dyskinesia Polysplenia Asplenia Hypoplastic philtrum Pulmonary artery atresia Abdominal situs inversus Heterotaxy Biliary atresia Common atrium Renal agenesis Pulmonic stenosis Pulmonary artery hypoplasia Volvulus Feeding difficulties in infancy Downslanted palpebral fissures Aganglionic megacolon Pyloric stenosis Intestinal obstruction Spastic diplegia Multiple lipomas Arthropathy Intestinal pseudo-obstruction Respiratory tract infection Increased mean platelet volume Congenital shortened small intestine Increased size of the mandible Peripheral neuropathy Atrial septal defect Arrhythmia Abnormal heart morphology Abnormal facial shape Recurrent respiratory infections Single ventricle Mitral atresia Prominent metopic ridge Polycystic kidney dysplasia Hypoplastic ischia Thoracic dysplasia Growth delay Cystic hygroma Muscular hypotonia Delayed speech and language development Frontal bossing Intellectual disability, severe Upslanted palpebral fissure Vertebral wedging Telecanthus Abnormal cardiac septum morphology Generalized tonic-clonic seizures Synophrys Thin vermilion border Short ribs Thrombocytopenia Postaxial polydactyly Biparietal narrowing Deviation of the thumb Cloverleaf skull Dextrotransposition of the great arteries Hematuria Posteriorly placed anus Hemolytic-uremic syndrome Overlapping toe Broad-based gait Hemiparesis Status epilepticus Malar flattening Visual loss Poor speech Generalized hypotonia Proteinuria Coarse facial features Gastroesophageal reflux Constipation Abnormality of the skeletal system Tremor Hypertension Atresia of the external auditory canal Cryptorchidism Brachyturricephaly


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Bifid uvula, related diseases and genetic alterations Feeding difficulties and Lactic acidosis, related diseases and genetic alterations Edema and Prominent nasal bridge, related diseases and genetic alterations Myopathy and Nevus, related diseases and genetic alterations Micrognathia and Polymicrogyria, related diseases and genetic alterations