Cleft palate, and Depressed nasal bridge

Diseases related with Cleft palate and Depressed nasal bridge

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


Top matches:

Medium match HOLOPROSENCEPHALY 4; HPE4


A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.

Related symptoms:

  • Ptosis
  • Depressed nasal bridge
  • Hypotelorism
  • Median cleft lip
  • Depressed nasal tip


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 4; HPE4

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9


MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9 Is also known as hyaluronidase deficiency|mps ix

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Pain
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9

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Other less relevant matches:

Medium match CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF


Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, {222600}). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF

Medium match POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME


Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

Medium match CONOTRUNCAL HEART MALFORMATIONS; CTHM


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

Medium match WEISSENBACHER- ZWEYMULLER SYNDROME


Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.

WEISSENBACHER- ZWEYMULLER SYNDROME Is also known as heterozygous otospondylomegaepiphyseal dysplasia|heterozygous osmed|pierre robin sequence-fetal chondrodysplasia syndrome|pierre robin syndrome-fetal chondrodysplasia syndrome

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia
  • Cleft palate
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about WEISSENBACHER- ZWEYMULLER SYNDROME

Medium match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

Medium match BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Medium match ATELOSTEOGENESIS TYPE III


Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS TYPE III

Top 5 symptoms//phenotypes associated to Cleft palate and Depressed nasal bridge

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Bifid uvula Uncommon - Between 30% and 50% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Depressed nasal bridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Hypertelorism Submucous cleft hard palate Polydactyly

Rare Symptoms - Less than 30% cases


Flat occiput Rhizomelia Severe short stature Pain Scoliosis Conductive hearing impairment Low-set ears Pes planus Intellectual disability, mild Hearing impairment Hyperactivity Cryptorchidism Midface retrusion Micrognathia Talipes equinovarus Hypotelorism Epicanthus Sensorineural hearing impairment Ptosis Intrauterine growth retardation Upslanted palpebral fissure Acidosis Neonatal hypotonia Aggressive behavior Synophrys Poor speech Mild neurosensory hearing impairment Delayed gross motor development Submucous cleft soft palate Abnormality of the mandible Coronal cleft vertebrae Short femur Glossoptosis Metaphyseal widening Renal tubular acidosis Attention deficit hyperactivity disorder Muscular hypotonia of the trunk Proptosis Myopia Delayed speech and language development Muscular hypotonia Anomalous origin of one pulmonary artery from ascending aorta Metabolic acidosis Autism Proximal renal tubular acidosis Radial bowing Hypoplasia of the maxilla Sandal gap Disproportionate short-limb short stature Elbow dislocation Prominent occiput Tibial bowing Flat acetabular roof Malar flattening Knee dislocation Cervical kyphosis Hitchhiker thumb Horizontal sacrum Cervical segmentation defect Widened distal phalanges Skeletal dysplasia Short neck Generalized hypotonia Abnormality of the pinna Microcephaly Anemia High palate Motor delay Brachycephaly Complete atrioventricular canal defect Autistic behavior Frontal bossing Thick eyebrow Highly arched eyebrow Single transverse palmar crease Long eyelashes Brittle hair Increased number of teeth Bilateral conductive hearing impairment Aortopulmonary window Tetralogy of Fallot Pulmonary artery atresia Abnormality of the acetabulum Growth delay Median cleft palate Patellar hypoplasia Foot polydactyly Bilateral talipes equinovarus Preaxial polydactyly Pterygium Cardiomegaly Hip dysplasia Talipes Hypoplasia of the corpus callosum Downslanted palpebral fissures Keratan sulfate excretion in urine Foot pain Heparan sulfate excretion in urine Hypogonadism Anteverted nares Median cleft lip Depressed nasal tip Median cleft lip and palate Semilobar holoprosencephaly Absent nasal septal cartilage Cognitive impairment Long philtrum Recurrent otitis media Syndactyly Thin vermilion border Abnormally large globe Kyphosis Abnormality of the skin Otitis media Delayed skeletal maturation Abdominal pain Maternal diabetes Short palpebral fissure Abnormality of cardiovascular system morphology Abnormality of metabolism/homeostasis Abnormal heart morphology Narrow mouth Abnormal cardiac septum morphology Coarctation of aorta Hypocalcemia Ectopic posterior pituitary Nasal speech Broad hallux Transposition of the great arteries Hypoparathyroidism Double outlet right ventricle Truncus arteriosus Ventricular septal defect Bilateral postaxial polydactyly Micropenis Bilateral cryptorchidism Cleft lip Cleft upper lip Oral cleft Growth hormone deficiency Depressed nasal ridge Holoprosencephaly Diabetes insipidus Anterior pituitary hypoplasia High pitched voice Hypopituitarism Poor appetite Panhypopituitarism Adrenocorticotropic hormone deficiency Microphallus Tombstone-shaped proximal phalanges



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