Abnormality of the skeletal system, and Omphalocele

Diseases related with Abnormality of the skeletal system and Omphalocele

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


Top matches:

Low match ISOLATED TRIGONOCEPHALY


Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.

ISOLATED TRIGONOCEPHALY Is also known as non-syndromic metopic craniosynostosis

Related symptoms:

  • Wide nasal bridge
  • Synophrys
  • Hypotelorism
  • Omphalocele
  • Prominent supraorbital ridges


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED TRIGONOCEPHALY

Low match CRANIORACHISCHISIS


Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.

Related symptoms:

  • Anal atresia
  • Congenital diaphragmatic hernia
  • Omphalocele
  • Spina bifida
  • Anencephaly


SOURCES: ORPHANET MENDELIAN

More info about CRANIORACHISCHISIS

Low match CAUDAL DUPLICATION


Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.

CAUDAL DUPLICATION Is also known as split notochord syndrome|dipygus

Related symptoms:

  • Cryptorchidism
  • Omphalocele
  • Abnormality of the genital system
  • Spina bifida
  • Renal hypoplasia/aplasia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CAUDAL DUPLICATION

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Other less relevant matches:

Low match BLADDER EXSTROPHY


Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.

BLADDER EXSTROPHY Is also known as classic exstrophy of the bladder

Related symptoms:

  • Inguinal hernia
  • Umbilical hernia
  • Vesicoureteral reflux
  • Intestinal malrotation
  • Hypoplasia of penis


SOURCES: ORPHANET MENDELIAN

More info about BLADDER EXSTROPHY

Low match MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME


Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.

MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME Is also known as mmihs|megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome|berdon syndrome

Related symptoms:

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Polyhydramnios
  • Umbilical hernia
  • Nausea and vomiting


SOURCES: ORPHANET MENDELIAN

More info about MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

Low match ISOLATED ANENCEPHALY/EXENCEPHALY


Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ANENCEPHALY/EXENCEPHALY

Low match TRIGONOCEPHALY 1; TRIGNO1


Individuals with trigonocephaly have a keel-shaped forehead with wide biparietal diameter, resulting in a triangular shape of the head. Trigonocephaly results from premature closure of the metopic sutures and usually occurs sporadically (summary by Frydman et al., 1984). Genetic Heterogeneity of Isolated TrigonocephalyAlso see trigonocephaly-2 (TRIGNO2 ), caused by mutation in the FREM1 gene (OMIM ) on chromosome 9p22.

TRIGONOCEPHALY 1; TRIGNO1 Is also known as craniosynostosis, metopic

Related symptoms:

  • Microcephaly
  • Craniosynostosis
  • Synophrys
  • Hypotelorism
  • Omphalocele


SOURCES: OMIM MENDELIAN

More info about TRIGONOCEPHALY 1; TRIGNO1

Low match EXSTROPHY OF BLADDER


Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780.Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (OMIM ). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery.

Related symptoms:

  • Cryptorchidism
  • Recurrent infections
  • Inguinal hernia
  • Umbilical hernia
  • Anal atresia


SOURCES: OMIM ORPHANET MENDELIAN

More info about EXSTROPHY OF BLADDER

Low match FETAL ENCASEMENT SYNDROME


Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.

FETAL ENCASEMENT SYNDROME Is also known as fetal encasement syndrome

Related symptoms:

  • Microcephaly
  • Hyperkeratosis
  • Thin skin
  • Omphalocele
  • Horseshoe kidney


SOURCES: ORPHANET OMIM MENDELIAN

More info about FETAL ENCASEMENT SYNDROME

Low match TIBIAL APLASIA-ECTRODACTYLY SYNDROME


Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.

TIBIAL APLASIA-ECTRODACTYLY SYNDROME Is also known as split-hand/foot malformation associated with aplasia of long bones|tibial hemimelia-ectrodactyly syndrome|tibial hemimelia with split hand/foot malformation|shfm associated with aplasia of long bones|tibial aplasia with split-hand/split-foot deformity|cle

Related symptoms:

  • Brachydactyly
  • Talipes equinovarus
  • Syndactyly
  • Camptodactyly
  • Finger syndactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TIBIAL APLASIA-ECTRODACTYLY SYNDROME

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Omphalocele

Symptoms // Phenotype % cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Intestinal malrotation Uncommon - Between 30% and 50% cases
Spina bifida Uncommon - Between 30% and 50% cases
Bladder exstrophy Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Omphalocele. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Vesicoureteral reflux Hypoplasia of penis Recurrent urinary tract infections Bowel incontinence Horseshoe kidney Abnormality of the anus Inguinal hernia Abnormality of cardiovascular system morphology Hydroureter Talipes equinovarus Postaxial hand polydactyly Synophrys Microcephaly Abnormality of the clitoris Epispadias Congenital diaphragmatic hernia Anal atresia Trigonocephaly Hypotelorism Abnormality of the genital system Anencephaly Myelomeningocele Spinal dysraphism Neural tube defect Abnormality of fibula morphology Absent forearm Absent external genitalia Mandibular aplasia Lower limb undergrowth Anotia Protruding tongue Upper limb undergrowth Brachydactyly Spontaneous abortion Thin skin Hyperkeratosis Bifid clitoris Cloacal exstrophy Exstrophy Macrothrombocytopenia Single umbilical artery Anteriorly placed anus Unilateral renal agenesis Aplasia of the sweat glands Abnormality of the foot Syndactyly Aplasia/Hypoplasia of the tibia Abnormality of femur morphology Short femur Short hallux Split foot Fibular hypoplasia Ectrodactyly Aplasia/Hypoplasia of the ulna Absent tibia Popliteal pterygium Hand monodactyly Camptodactyly Rudimentary to absent tibiae Femoral bowing Abnormality of the urinary system Preaxial hand polydactyly Cupped ear Overfolded helix Split hand Limitation of joint mobility Patellar aplasia Finger syndactyly Wide nasal bridge Aplasia/Hypoplasia of the cerebellum Abnormality of pelvic girdle bone morphology Urogenital fistula Abdominal distention Nausea and vomiting Polyhydramnios Abnormality of the ureter Bifid sacrum Intestinal duplication Spinal cord lesion Abnormality of the penis Uterus didelphys Multicystic kidney dysplasia Abnormal sacrum morphology Ureteral duplication Vertebral segmentation defect Renal hypoplasia/aplasia Cervical spina bifida Bifid sternum Craniorachischisis Sirenomelia Prominent supraorbital ridges Sepsis Abnormality of the gastrointestinal tract Recurrent infections Abnormal lung lobation Lumbar hemivertebrae Meckel diverticulum Long penis Mild microcephaly Preauricular skin tag Craniosynostosis Abnormality of the diaphragm Calvarial skull defect Primary adrenal insufficiency Microcolon Abnormality of neuronal migration Holoprosencephaly Hernia Hydrocephalus Cleft palate Hypertelorism Neoplasm of the heart Hypoperistalsis Megacystis Aplasia of the 3rd finger



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