Cleft palate, and Macrocephaly

Diseases related with Cleft palate and Macrocephaly

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


Top matches:

Medium match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Low match ENLARGED PARIETAL FORAMINA


Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.

ENLARGED PARIETAL FORAMINA Is also known as fpp|cranium bifidum occultum|fenestrae parietales symmetricae|hereditary cranium bifidum|catlin marks|pfm|parietal foramina, symmetric|cranium bifidum, hereditary|symmetric parietal foramina|foramina parietalia permagna

Related symptoms:

  • Seizures
  • Cleft palate
  • Macrocephaly
  • Headache
  • Confusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about ENLARGED PARIETAL FORAMINA

Low 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

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Other less relevant matches:

Low match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Low match KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1


Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

Low match AURICULOCONDYLAR SYNDROME 2; ARCND2


Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

Low 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

Low match CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME


Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

Low match HYPOTHALAMIC HAMARTOMAS


Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Low match HOLOPROSENCEPHALY 2; HPE2


A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Single median maxillary incisor Holoprosencephaly Hearing impairment Midface retrusion Microphthalmia Low-set ears Hydrocephalus High palate Upslanted palpebral fissure Agenesis of corpus callosum Abnormality of cardiovascular system morphology Short neck Coloboma Hypotelorism Generalized hypotonia Seizures

Rare Symptoms - Less than 30% cases


Proboscis Oral cleft Depressed nasal bridge Iris coloboma Hypermetropia Absent nasal septal cartilage Patent ductus arteriosus Macrotia Broad forehead Astigmatism Microcornea Ptosis Exotropia Median cleft lip Feeding difficulties Cyclopia Spina bifida occulta Median cleft lip and palate Sensorineural hearing impairment Ventricular septal defect Abnormality of the pinna Nystagmus Micrognathia Strabismus Abnormal facial shape Abnormality of the ribs Cupped ear Wide nasal bridge Cleft upper lip Hypertelorism Dental malocclusion Cleft lip Short stature Frontal bossing Panhypopituitarism Alobar holoprosencephaly Snoring Semilobar holoprosencephaly Overfolding of the superior helices Parietal bossing Speech articulation difficulties Midline defect of the nose Temporomandibular joint ankylosis Bilateral microphthalmos Protruding ear Hypoplastic superior helix Smooth philtrum Bilateral cleft lip and palate Broad face Brachydactyly Depressed nasal tip Bilateral cleft lip Thin upper lip vermilion Partial agenesis of the corpus callosum Mandibular condyle hypoplasia Flat occiput Omphalocele Question mark ear Mandibular condyle aplasia Cleft at the superior portion of the pinna Prominent nose Highly arched eyebrow Epicanthus Hypoplasia of the premaxilla Cerebellar hypoplasia Fusion of the left and right thalami Anterior hypopituitarism Pulmonary hypoplasia Postaxial hand polydactyly Renal dysplasia Short ribs Occipital encephalocele Hamartoma Microglossia Glioma Submucous cleft hard palate Narrow nasal bridge Diabetes insipidus Hypothalamic hamartoma Bifid uvula Muscular hypotonia Cataract Malar flattening Constipation Micromelia Hip dislocation Flat nasal alae Broad neck Visual impairment Downslanted palpebral fissures Aplasia of the nose Pectus excavatum High forehead Retrognathia Prominent nasal bridge Choanal atresia Optic nerve coloboma Adrenal hypoplasia Neoplasm Hypoplastic philtrum Central apnea Abnormal heart morphology Micropenis Single ventricle Chronic constipation Skeletal dysplasia Long penis Decreased cervical spine mobility Upper airway obstruction Narrow forehead Missing ribs Abnormality of female internal genitalia Abnormal sacrum morphology Posterior rib fusion Abnormality of the skeletal system Intellectual disability, severe Synophrys Deep philtrum Prominent occiput Trigonocephaly Absent thumb Abnormality of digit Facial cleft Scaphocephaly Small posterior fossa Exencephaly Vertebral segmentation defect Short thorax Microtia Confusion Cryptorchidism Atrial septal defect Abnormality of the dentition Autistic behavior Thin vermilion border Coarctation of aorta Headache Encephalocele Hyperlordosis Spina bifida Calvarial skull defect Aplasia cutis congenita of scalp Parietal foramina Symmetrical, oval parietal bone defects Intrauterine growth retardation Recurrent respiratory infections Severe short stature Conductive hearing impairment Facial asymmetry Glossoptosis Low-set, posteriorly rotated ears Limited neck range of motion Cervicomedullary schisis Respiratory distress Posteriorly rotated ears Narrow mouth Gastroesophageal reflux Neonatal hypotonia Apnea Abnormality of limb bone morphology Hirsutism Full cheeks Round face Dental crowding Preauricular skin tag Poor suck Bulbar palsy Ankylosis Mild conductive hearing impairment Moderate hearing impairment Intestinal malrotation Mixed hearing impairment Webbed neck Otitis media Low posterior hairline Abnormality of the genitourinary system Relative macrocephaly Unilateral renal agenesis Rocker bottom foot Vertebral fusion Cervical C2/C3 vertebral fusion Sprengel anomaly External ear malformation Fused cervical vertebrae Stiff neck Bimanual synkinesia Posterior fossa cyst Congenital muscular torticollis Abnormal vertebral segmentation and fusion Anterior pituitary agenesis



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