Cleft palate, and Smooth philtrum

Diseases related with Cleft palate and Smooth philtrum

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


Top matches:

Medium match OROFACIAL CLEFT 5; OFC5


OROFACIAL CLEFT 5; OFC5 Is also known as cleft lip with or without cleft palate, nonsyndromic, 5

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MESH MENDELIAN

More info about OROFACIAL CLEFT 5; OFC5

Medium match OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6


OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 Is also known as cleft lip with or without cleft palate, nonsyndromic, 6

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6

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

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Other less relevant matches:

Medium match 15Q14 MICRODELETION SYNDROME


15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Medium match CORNELIA DE LANGE SYNDROME 4; CDLS4


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cleft palate
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 4; CDLS4

Medium match CRANIOLENTICULOSUTURAL DYSPLASIA


Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Medium match GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS


Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016).

GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS Is also known as polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS

Medium match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

Medium match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Top 5 symptoms//phenotypes associated to Cleft palate and Smooth philtrum

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
Thin upper lip vermilion Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Hypertelorism Long philtrum Prominent nasal bridge Abnormal facial shape Highly arched eyebrow Low-set ears Delayed speech and language development Seizures High palate Short nose Cryptorchidism Generalized hypotonia Epicanthus Short philtrum Brachydactyly Brachycephaly Bulbous nose Synophrys Micrognathia Wide nasal bridge Gastroesophageal reflux Bifid uvula Thin vermilion border Ptosis

Rare Symptoms - Less than 30% cases


Abnormality of the dentition Wide nose Cognitive impairment Abnormality of the pinna Slender finger Posteriorly rotated ears Cutis marmorata Deeply set eye Intellectual disability, moderate Cleft upper lip Abnormal cardiac septum morphology Finger clinodactyly Telecanthus Clinodactyly of the 5th finger Prominent forehead Absent speech Convex nasal ridge Thick eyebrow Myopia Pectus carinatum Downturned corners of mouth Growth delay Failure to thrive Depressed nasal bridge Wide intermamillary distance Clinodactyly Scoliosis Ventricular septal defect Skeletal dysplasia Hyperpigmentation of the skin Short neck Prominent nose Oral cleft Pulmonic stenosis Protruding ear Cleft lip Partial agenesis of the corpus callosum Upslanted palpebral fissure Frontal bossing Agenesis of corpus callosum Motor delay Macrocephaly Midface retrusion Microretrognathia Punctate cataract Posterior wedging of vertebral bodies Ulnar deviation of the hand Narrow iliac wings Hearing impairment Large fleshy ears Posterior Y-sutural cataract High iliac wings Forehead hyperpigmentation Sutural cataract Periportal fibrosis Double outlet right ventricle Flexion contracture Abnormality of the kidney Polycystic kidney dysplasia Multiple joint contractures Hepatic fibrosis Congenital diaphragmatic hernia Flared metaphysis Oligohydramnios Sloping forehead Underdeveloped nasal alae Pulmonary hypoplasia Hydronephrosis Abnormality of the skeletal system Retrognathia Abnormal heart morphology Long palpebral fissure Aniridia Hernia Thrombocytopenia Abnormality of cardiovascular system morphology Abnormal lung lobation Short long bone Behavioral abnormality Dysarthria Feeding difficulties in infancy Nasal speech Postural instability Generalized myoclonic seizures Webbed neck High myopia Intellectual disability, profound Thick lower lip vermilion Broad-based gait Tall stature Dental crowding Narrow face Spontaneous abortion Sparse eyebrow High, narrow palate Decreased muscle mass Disproportionate tall stature Long fingers Epileptic spasms Slender build Hyperextensibility of the finger joints Small earlobe Long hallux Narrow palm Focal motor seizures Long palm Recurrent fractures Unsteady gait Postnatal growth retardation Delayed closure of the anterior fontanelle Poor speech Hirsutism Small hand Short foot Hypertrichosis Long eyelashes Low anterior hairline Proximal placement of thumb Thick hair Limited elbow movement Muscular hypotonia Gait disturbance Arachnodactyly Talipes equinovarus Pectus excavatum Myoclonus Osteoporosis Narrow mouth Mandibular prognathia Kyphoscoliosis Difficulty walking Camptodactyly Facial asymmetry Abnormality of movement Hypoplasia of teeth Radioulnar synostosis Decreased skull ossification Low-set, posteriorly rotated ears Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Atrial septal defect Kyphosis Immunodeficiency Inguinal hernia Autism High forehead Long face Alobar holoprosencephaly Everted lower lip vermilion Narrow forehead Pointed chin Tented upper lip vermilion Laryngomalacia Acne Biparietal narrowing Everted upper lip vermilion Spasticity Hypoplasia of the premaxilla Semilobar holoprosencephaly Hypoplasia of the corpus callosum Flat occiput Hydrocephalus Microphthalmia Macrotia Broad forehead Iris coloboma Dental malocclusion Hypotelorism Omphalocele Holoprosencephaly Median cleft lip Parietal bossing Bilateral cleft lip Depressed nasal tip Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Midline defect of the nose Feeding difficulties Intellectual disability, severe Capillary hemangioma Delayed eruption of teeth Osteopenia Pes planus Joint laxity Wide mouth Sparse hair Narrow chest Carious teeth Joint hyperflexibility Abnormality of skin pigmentation Hypoplasia of the maxilla Optic atrophy Esotropia Microdontia Large fontanelles Wide anterior fontanel Hemangioma Coarse hair Prominent supraorbital ridges Brittle hair Premature loss of teeth Malar flattening Cataract Dystonia Bruxism Muscular hypotonia of the trunk Small for gestational age Neurological speech impairment Round face Short palpebral fissure Absence seizures Widely spaced teeth Long nose Prominent metopic ridge Prominent nasal tip Prominent eyelashes Long upper lip Syndactyly Hyperactivity Attention deficit hyperactivity disorder Intestinal malrotation Hemivertebrae Short femoral neck Submucous cleft hard palate Exostoses Vertebral clefting Asymmetry of the ears



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