Cleft palate, and Wide nasal bridge

Diseases related with Cleft palate and Wide nasal bridge

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


Top matches:

Medium match HAMEL CEREBRO-PALATO-CARDIAC SYNDROME


Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

Medium match CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE


Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.

CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE Is also known as gpapp deficiency

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3


Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 Is also known as mental retardation, autosomal recessive 17|mrt21|glycosylphosphatidylinositol biosynthesis defect 8|gpibd8|mrt17|mental retardation, autosomal recessive 21

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3

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Other less relevant matches:

Medium match AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS


Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS Is also known as autosomal dominant spondylocostal dysplasia

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS

Medium match MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA


MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA

Medium match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4


Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by Howard et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4 Is also known as glycosylphosphatidylinositol biosynthesis defect 10|gpibd10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4

Medium match WAARDENBURG SYNDROME TYPE 1


Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.

WAARDENBURG SYNDROME TYPE 1 Is also known as waardenburg syndrome type i|ws1

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 1

Medium match DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE


Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

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

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

Symptoms // Phenotype % cases
Short nose Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Global developmental delay Narrow mouth Atrial septal defect Seizures Upslanted palpebral fissure Brachydactyly Tented upper lip vermilion Malar flattening

Rare Symptoms - Less than 30% cases


Oral cleft Elevated alkaline phosphatase Scoliosis Macrocephaly Anteverted nares Abnormality of cardiovascular system morphology Severe short stature Depressed nasal tip Holoprosencephaly Low-set ears Abnormality of the pinna Protruding ear Cryptorchidism Hypertelorism Midface retrusion Agenesis of corpus callosum Cleft lip Micromelia Aganglionic megacolon Thin upper lip vermilion Hydrocephalus Cleft upper lip Broad nasal tip Generalized hypotonia Cupped ear Growth delay Flat face Short stature Absent speech Talipes equinovarus Meningocele Heterochromia iridis White hair White forelock Lacrimation abnormality White eyelashes White eyebrow Cerebral atrophy Hypopigmentation of hair Respiratory insufficiency Inguinal hernia Posteriorly rotated ears Umbilical hernia Joint stiffness Narrow chest Pulmonary hypoplasia Overgrowth Sprengel anomaly Congenital sensorineural hearing impairment Premature graying of hair Mandibular prognathia Mutism Bruxism Large earlobe Shortening of all distal phalanges of the fingers Tented philtrum Strabismus Ptosis Telecanthus Depressed nasal ridge Abnormality of the eye Synophrys Thick eyebrow Underdeveloped nasal alae Abnormality of the hair Spina bifida Hypopigmented skin patches Abnormality of vision Blue sclerae Bowing of the long bones Abnormality of the metaphysis Bilateral microphthalmos Flat occiput Partial agenesis of the corpus callosum Median cleft lip Bilateral cleft lip Bilateral cleft lip and palate Broad face Panhypopituitarism Median cleft lip and palate Hypotelorism Single median maxillary incisor Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Omphalocele Dental malocclusion Involuntary movements Anisospondyly Disproportionate short-limb short stature Short long bone Abnormality of pelvic girdle bone morphology Thoracic hypoplasia Calvarial skull defect Abnormality of the abdominal wall Neonatal short-limb short stature High palate Prominent nose Epicanthus Frontal bossing Microphthalmia Macrotia Broad forehead Smooth philtrum Iris coloboma Highly arched eyebrow Postnatal microcephaly Full cheeks Generalized-onset seizure Everted lower lip vermilion Depressivity Alopecia Conductive hearing impairment Carpal synostosis Joint dislocation Coloboma Facial asymmetry Hypoplasia of the maxilla Patellar dislocation Dental crowding Preauricular skin tag Sparse and thin eyebrow Sparse eyelashes Bicuspid aortic valve Sparse eyebrow Preauricular pit Hydroureter Abnormality of the dentition Posterior rib fusion Stenosis of the external auditory canal Recurrent respiratory infections Mild microcephaly Intellectual disability, mild Intrauterine growth retardation Intellectual disability, severe Motor delay Short neck Sensorineural hearing impairment Coronal craniosynostosis Abnormal sacrum morphology Hyperlordosis Abnormality of the ribs Spina bifida occulta Short thorax Prominent occiput Vertebral segmentation defect Missing ribs Abnormality of female internal genitalia Glossoptosis Trismus Hyperphosphatemia Shield chest Sandal gap Dandy-Walker malformation Aplasia/Hypoplasia of the corpus callosum Scrotal hypoplasia Adrenal hypoplasia Bulbous nose Barrel-shaped chest Ulnar deviation of the hand Wide intermamillary distance Microphallus Ulnar deviation of the hand or of fingers of the hand Arachnodactyly Hypoplasia of the corpus callosum Long philtrum Brain atrophy Inability to walk Generalized myoclonic seizures Ambiguous genitalia Postaxial polydactyly Eyelid coloboma Syndactyly Mandibulofacial dysostosis Delayed eruption of primary teeth Lower eyelid coloboma Short toe Abnormality of the skeletal system Ventriculomegaly Short metacarpal Short foot Poor speech Hypospadias Absence seizures Polydactyly Micropenis Deeply set eye Genu valgum High forehead Proptosis Flat nasal alae



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