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:
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
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
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Other less relevant matches:
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
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
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
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
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
|
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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
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Macrocephaly and Bifid uvula, related diseases and genetic alterations
Brachydactyly and Intellectual disability, mild, related diseases and genetic alterations
Obesity and Upslanted palpebral fissure, related diseases and genetic alterations
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