Cleft palate, and Broad forehead

Diseases related with Cleft palate and Broad forehead

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


Top matches:

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Medium match MECKEL SYNDROME, TYPE 8; MKS8


Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 8; MKS8

Medium 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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

Medium match FAMILIAL VISCERAL MYOPATHY


Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

Medium match CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR


CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR Is also known as cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR

Medium match THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations|beaulieu-boycott-innes syndrome|bbis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Medium match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME


Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME Is also known as tar syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Thrombocytopenia


SOURCES: ORPHANET MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME

Medium match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Medium match SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC


Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

Top 5 symptoms//phenotypes associated to Cleft palate and Broad forehead

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Midface retrusion Short nose Micrognathia Hearing impairment Upslanted palpebral fissure Abnormal heart morphology Short neck Abnormality of the skeletal system Synophrys High palate Oral cleft Hypertelorism Narrow forehead Cleft lip Talipes equinovarus Low-set ears Thin upper lip vermilion Microphthalmia Low-set, posteriorly rotated ears Clinodactyly of the 5th finger Narrow chest Ventricular septal defect Abnormal cardiac septum morphology

Rare Symptoms - Less than 30% cases


Holoprosencephaly Macrotia Large forehead Perimembranous ventricular septal defect Hypermetropia Atrial septal defect High anterior hairline Horseshoe kidney Sensorineural hearing impairment Hypotelorism Broad thumb Trigonocephaly Abnormality of cardiovascular system morphology Single median maxillary incisor Patent ductus arteriosus Epicanthus Brachydactyly Conductive hearing impairment Deeply set eye Clinodactyly Highly arched eyebrow Dental malocclusion Downslanted palpebral fissures Generalized hypotonia Sandal gap Dental crowding High forehead Cataract Myopia Macrocephaly Hydrocephalus Abdominal distention Cleft upper lip Renal dysplasia Scoliosis Abnormality of the kidney Flat face Velopharyngeal insufficiency Endometriosis Left-to-right shunt Muscular ventricular septal defect Thin lower lip vermilion Obstructive sleep apnea Mild conductive hearing impairment Thrombocytopenia Proportionate short stature Finger syndactyly Hip dislocation Tetralogy of Fallot Coxa valga Abnormality of the genitourinary system Adducted thumb Transposition of the great arteries Genu varum Sleep apnea Pierre-Robin sequence Wolff-Parkinson-White syndrome Supraventricular tachycardia Pointed chin Retrognathia Camptodactyly Blepharophimosis Carious teeth Anal atresia Prominent sternum Renal agenesis Short palpebral fissure Recurrent urinary tract infections Premature ovarian insufficiency 11 pairs of ribs Anterior open bite Unilateral renal agenesis Overlapping toe Long nose Short 5th metacarpal Low hanging columella Spondylolisthesis Mild microcephaly Abnormality of coagulation Infantile muscular hypotonia Aplasia of the uterus Absent radius Posteriorly rotated ears Joint hypermobility Pulmonic stenosis Bifid uvula Esotropia Apnea Osteopenia Finger clinodactyly Nephrocalcinosis Hypercalciuria Patent foramen ovale Tachycardia Delayed skeletal maturation Mixed hearing impairment Arrhythmia Pectus excavatum Severe sensorineural hearing impairment Long philtrum Elliptocytosis Cleft hard palate Broad distal phalanx of finger Thin vermilion border Talipes Patellar dislocation Axial malrotation of the kidney Fused cervical vertebrae Fibular aplasia Phocomelia Aplasia/Hypoplasia of the patella Cervical ribs Aplasia/Hypoplasia of the ulna Aplasia/hypoplasia of the humerus Nevus flammeus of the forehead Tibial torsion Spina bifida occulta Hydronephrosis Strabismus Anemia Delayed speech and language development Short toe Malar flattening Narrow mouth Pes planus Palpitations Everted lower lip vermilion Delayed eruption of teeth Motor delay Intellectual disability, mild Scaphocephaly Depressed nasal bridge Intellectual disability, severe Coloboma Astigmatism Microcornea Exotropia Deep philtrum Absent thumb Abnormality of digit Facial cleft Cyclopia Equinovarus deformity Proboscis Small posterior fossa Exencephaly Seizures Wide nasal bridge Frontal bossing Agenesis of corpus callosum Protruding ear Smooth philtrum Iris coloboma Ptosis Hyperechogenic kidneys Omphalocele Abnormality of epiphysis morphology Nystagmus Kyphosis Glaucoma Skeletal dysplasia Hyperlordosis Platyspondyly Micromelia Retinal detachment Limitation of joint mobility Osteoarthritis Coxa vara Enlarged kidney Short thorax Polydactyly Abnormality of the pinna Postaxial hand polydactyly Depressed nasal ridge Encephalocele Polycystic kidney dysplasia Anophthalmia Pericardial effusion Occipital encephalocele Prominent nose Flat occiput Abnormality of the dentition Coarctation of aorta Hyperparathyroidism Aplasia/Hypoplasia of the abdominal wall musculature Abdominal situs inversus Megacystis Feeding difficulties Syndactyly Gastroesophageal reflux Autistic behavior Poor speech Full cheeks Cutaneous syndactyly Hydroureter Tented upper lip vermilion Sparse eyebrow 2-3 toe syndactyly Broad hallux Short 5th finger Achalasia Short 2nd finger Laterally extended eyebrow Oral aversion Cryptorchidism Anonychia Aganglionic megacolon Partial agenesis of the corpus callosum Semilobar holoprosencephaly Median cleft lip Bilateral cleft lip Depressed nasal tip Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Midline defect of the nose Parietal bossing Alobar holoprosencephaly Round face Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Umbilical hernia Joint stiffness Camptodactyly of finger Prominent nasal bridge Arachnodactyly Vesicoureteral reflux Paroxysmal supraventricular tachycardia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Coronary artery atherosclerosis, related diseases and genetic alterations Macrocephaly and Mitral valve prolapse, related diseases and genetic alterations Brachydactyly and Microphthalmia, related diseases and genetic alterations Obesity and Upslanted palpebral fissure, related diseases and genetic alterations Immunodeficiency and Hepatitis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more