Cleft palate, and Omphalocele

Diseases related with Cleft palate and Omphalocele

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


Top matches:

Medium 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

Medium match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

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Other less relevant matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13


Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

Medium match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Medium match HYDROLETHALUS SYNDROME 1; HLS1


Related symptoms:

  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Macrocephaly


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

Medium match FIBROCHONDROGENESIS


Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Medium match 3MC SYNDROME 2; 3MC2


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

Medium match 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).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

Medium match OTOPALATODIGITAL SYNDROME, TYPE I; OPD1


Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1 ), otopalatodigital syndrome-2 (OPD2 ), and Melnick-Needles syndrome (MNS ), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'

OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 Is also known as opd syndrome 1|opd i syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

Top 5 symptoms//phenotypes associated to Cleft palate and Omphalocele

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Omphalocele. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Umbilical hernia Midface retrusion Bilateral cleft lip Bilateral cleft lip and palate Hearing impairment Intellectual disability Ventricular septal defect Hypospadias Diastasis recti Short stature Abnormality of the kidney Growth delay Conductive hearing impairment Scoliosis Polydactyly Downslanted palpebral fissures Skeletal dysplasia Clinodactyly Abnormal heart morphology Small hand Highly arched eyebrow Oral cleft Broad forehead Patent ductus arteriosus Premature birth Microphthalmia Frontal bossing Bifid tongue Global developmental delay Thoracic hypoplasia Epicanthus Preaxial polydactyly Holoprosencephaly Wide nasal bridge Supernumerary nipple Short nose Abnormality of the pinna Hernia Hydrocephalus

Rare Symptoms - Less than 30% cases


Telecanthus Abdominal wall defect Broad foot Visceromegaly Large for gestational age Short 5th finger Hemihypertrophy Elbow dislocation Enlarged kidney Abnormality of the genitourinary system Strabismus Embryonal neoplasm Bilateral conductive hearing impairment Nevus flammeus Neonatal hypoglycemia Anterior creases of earlobe Radioulnar synostosis Auricular pit Dandy-Walker malformation Cleft upper lip Bowing of the long bones Encephalocele Hip dislocation Short ribs Blepharophimosis Abnormality of the outer ear Spontaneous abortion Renal cyst Respiratory insufficiency Postaxial polydactyly Pulmonary hypoplasia Craniosynostosis Narrow chest Coarse facial features Postnatal growth retardation Bell-shaped thorax Rhizomelia Muscular hypotonia of the trunk Limb undergrowth Polyhydramnios Abnormality of the face Anteverted nares Depressed nasal tip Median cleft lip Short palm Prominent nose Protruding ear Overgrowth Agenesis of corpus callosum Macrocephaly Flat face Brachydactyly Microcephaly Seizures Abnormal lung lobation Anencephaly Congenital diaphragmatic hernia Postaxial hand polydactyly Talipes equinovarus Broad face Macrotia Epicanthus inversus Hypoglycemia Caudal appendage Inguinal hernia Splenomegaly Generalized hypotonia Hepatomegaly Depressivity Cognitive impairment Malar flattening Syndactyly Micropenis Clinodactyly of the 5th finger Abnormal facial shape Ptosis Severe short stature Narrow mouth Macroglossia Depressed nasal bridge Long clavicles Broad philtrum Broad ribs Hypoplastic ischia Abnormal diaphysis morphology Metaphyseal cupping Esodeviation Limited elbow movement Anterior rib cupping Hypoplasia of the musculature Widely patent sagittal suture Abnormality of the vertebral column Posterior rib cupping Posterior vertebral hypoplasia Widely patent coronal suture Pear-shaped vertebrae Broad ischia Prominent nasal bridge Dumbbell-shaped long bone Joint hypermobility Broad long bones Downturned corners of mouth Thin clavicles Abnormal vertebral morphology Torticollis Narrow greater sacrosciatic notches Ectropion Horseshoe kidney Limitation of joint mobility Prominence of the premaxilla Selective tooth agenesis Prominent supraorbital ridges Proximal placement of thumb Broad hallux Prominent occiput Limited elbow extension Thickened calvaria Dislocated radial head Synostosis of carpal bones Anodontia Short hallux Short 4th metacarpal Delayed closure of the anterior fontanelle Short 5th metacarpal Absent frontal sinuses Oligodontia Hypoplastic frontal sinuses Abnormal vertebral segmentation and fusion Multiple impacted teeth Short 3rd metacarpal Capitate-hamate fusion Broad distal phalanx of the thumb Bipartite calcaneus Accessory carpal bones Abnormality of the tarsal bones Limited knee flexion Thick skull base Bulbous tips of toes Lateral femoral bowing Long second metacarpal Abnormality of the metacarpal bones Sandal gap Partial abdominal muscle agenesis Urethral valve Edema Congestive heart failure Intellectual disability, moderate Talipes Renal agenesis Wormian bones Scrotal hypoplasia Epiphyseal dysplasia Bifid scrotum Facial cleft Shawl scrotum Irregular vertebral endplates Skin dimples Penoscrotal hypospadias Prominent coccyx Finger clinodactyly Abnormality of the skeletal system Intellectual disability, mild Pectus excavatum Nail dystrophy Toe syndactyly Short distal phalanx of finger Bifid uvula Hypoplastic scapulae Nail dysplasia Broad thumb Short thumb Increased bone mineral density Congenital hip dislocation Coxa valga Hypoplastic fingernail Bifid nose Hearing abnormality Cerebellar vermis hypoplasia Muscle weakness Delayed speech and language development Autistic behavior Facial asymmetry Nephroblastoma Abnormality of the ureter Rhabdomyosarcoma Cerebellar hypoplasia Respiratory failure Anal atresia Ambiguous genitalia Renal hypoplasia Renal dysplasia Flat nasal alae Microretrognathia Relative macrocephaly Molar tooth sign on MRI Natal tooth Occipital encephalocele Flat acetabular roof Thoracic dysplasia Hypoplastic pelvis Cleft soft palate Horizontal ribs Lobulated tongue Squared iliac bones Neoplasm Fusion of the left and right thalami Unicoronal synostosis Iris coloboma Abnormality of cardiovascular system morphology Spina bifida Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Primary adrenal insufficiency Calvarial skull defect Abnormality of the diaphragm Neural tube defect High palate Upslanted palpebral fissure Thin upper lip vermilion Smooth philtrum Dental malocclusion Absent nasal septal cartilage Hypotelorism Flat occiput Partial agenesis of the corpus callosum Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Hypoplastic facial bones Apnea Megalocornea High myopia Cataract Myopia Short neck Long philtrum Proptosis Camptodactyly Camptodactyly of finger Pectus carinatum Platyspondyly Micromelia Short foot Round face Abnormality of the ribs Cleft in skull base Abnormality of the metaphysis Abnormal form of the vertebral bodies Wide anterior fontanel Hydrops fetalis Joint contracture of the hand Plagiocephaly Short long bone Patent foramen ovale Hypoplastic toenails Thin ribs Fibular hypoplasia Protuberant abdomen Proximal tibial hypoplasia Adrenal gland dysgenesis Psoriasiform dermatitis Preaxial hand polydactyly Neuroblastoma Syringomyelia Central hypotonia Abnormality of the vasculature Skin tags Abnormality of earlobe Tethered cord Prune belly Postauricular pit Intrauterine growth retardation Hydronephrosis Heterotopia Absent septum pellucidum Agenesis of the diaphragm Upper limb undergrowth Broad neck Tracheal stenosis Abnormal cortical gyration Preaxial foot polydactyly Complete atrioventricular canal defect Abnormal vagina morphology Arrhinencephaly Accessory spleen Severe hydrocephalus Laryngeal hypoplasia Duplication of phalanx of hallux Bifid uterus Abnormality of the fifth metatarsal bone



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