Cleft palate, and Everted lower lip vermilion

Diseases related with Cleft palate and Everted lower lip vermilion

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


Top matches:

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 CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME


Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

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

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Other less relevant matches:

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

Medium match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

Medium match MOEBIUS SYNDROME


Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

MOEBIUS SYNDROME Is also known as mÖbius syndrome|congenital facial diplegia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Muscular hypotonia
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MOEBIUS SYNDROME

Medium match GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME


Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

Medium match CRANIOECTODERMAL DYSPLASIA 2; CED2


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Medium match MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME


Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.

MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME Is also known as mfdm syndrome|growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate|mfdm|mandibulofacial dysostosis, guion-almeida type|mandibulofacial dysostosis with microcephaly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Everted lower lip vermilion

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Everted lower lip vermilion. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Epicanthus

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Microcephaly Intellectual disability Wide nasal bridge Abnormality of the dentition Inguinal hernia Ventricular septal defect Clinodactyly of the 5th finger Short neck Clinodactyly Short philtrum Pectus excavatum Anteverted nares High palate Hypertelorism Generalized hypotonia Seizures Hearing impairment Ptosis Short nose Hypoplasia of the maxilla Sparse eyebrow Brachydactyly Posteriorly rotated ears Coloboma Delayed speech and language development Patent ductus arteriosus Pulmonic stenosis Long philtrum Abnormality of the pinna Conductive hearing impairment Autism Sparse hair Low-set, posteriorly rotated ears Prominent nasal bridge Abnormal heart morphology Oral cleft Bulbous nose Midface retrusion Narrow forehead Abnormal cardiac septum morphology Facial asymmetry Hypospadias Dental crowding Telecanthus Scoliosis Strabismus Finger syndactyly

Rare Symptoms - Less than 30% cases


Behavioral abnormality Thin upper lip vermilion Abnormality of the skeletal system Feeding difficulties in infancy Talipes equinovarus Muscular hypotonia Hernia High anterior hairline Hypertension Macrotia Attention deficit hyperactivity disorder Craniosynostosis Tapered finger Delayed skeletal maturation Broad forehead Depressed nasal bridge Joint laxity Abnormality of cardiovascular system morphology Megalocornea Synophrys Single transverse palmar crease Progressive microcephaly Upslanted palpebral fissure Sandal gap Joint hyperflexibility Small hand Pierre-Robin sequence Cryptorchidism Cognitive impairment Microdontia Frontal bossing Cupped ear High forehead Kyphosis Tented upper lip vermilion Hypoplasia of the corpus callosum Mandibulofacial dysostosis Ventriculomegaly Bicuspid aortic valve Sparse eyelashes Motor delay Sparse and thin eyebrow Atrial septal defect Stenosis of the external auditory canal Cataract Glossoptosis Highly arched eyebrow Preauricular skin tag Cleft lip Intellectual disability, moderate Depressivity Smooth philtrum Pointed chin Protruding ear Long face Narrow palpebral fissure Plagiocephaly Nasal speech Cutis laxa Widely spaced teeth Chronic kidney disease Broad philtrum Patent foramen ovale Preaxial polydactyly Bipolar affective disorder Nephronophthisis Cystic hygroma Cutaneous finger syndactyly Polysplenia Cloverleaf skull Hyperbilirubinemia Biliary cirrhosis Cholangitis Mesomelia Gastroesophageal reflux Short ribs Narrow chest Subvalvular aortic stenosis Rod-cone dystrophy Polydactyly Acidosis Polyhydramnios Retrognathia Elevated hepatic transaminase Proteinuria Blepharophimosis Dolichocephaly Stage 5 chronic kidney disease Hepatic fibrosis Renal cyst Full cheeks Ectodermal dysplasia Limb undergrowth Postaxial hand polydactyly Cholestasis Left ventricular hypertrophy Broad face Shallow orbits Rhizomelia Hydrops fetalis Bile duct proliferation Feeding difficulties Portal fibrosis Morphological abnormality of the middle ear Slender finger Esophageal atresia Abnormality of the antihelix Skin tags Large earlobe Abnormal renal morphology Moderate global developmental delay Prominent nose Accessory oral frenulum Prominent glabella Underdeveloped tragus Absent tragus Preaxial hand polydactyly Ataxia Syndactyly Macrocephaly Gait disturbance Abnormality of skin pigmentation Microphthalmia Small for gestational age Hyperactivity Gait ataxia Pectus carinatum Respiratory tract infection Aggressive behavior Tracheoesophageal fistula Psychosis Horizontal ribs Delayed myelination Metopic synostosis Horseshoe kidney Fused teeth Growth delay Narrow face Anxiety Respiratory distress Malar flattening Absent speech Microtia Bifid uvula Choanal atresia Pulmonary arterial hypertension Aspiration Postnatal microcephaly Abnormality of the outer ear Atresia of the external auditory canal Deep philtrum Aortic valve stenosis Radioulnar synostosis Trigonocephaly Overfolded helix Anorexia Stereotypy Proximal placement of thumb Failure to thrive Arthrogryposis multiplex congenita Renal insufficiency Perimembranous ventricular septal defect Infantile muscular hypotonia Sleep apnea Transposition of the great arteries Proportionate short stature Obstructive sleep apnea Supraventricular tachycardia 11 pairs of ribs Wolff-Parkinson-White syndrome Spondylolisthesis Short 5th metacarpal Anterior open bite Short toe Prominent sternum Paroxysmal supraventricular tachycardia Congestive heart failure Umbilical hernia Pes planus Camptodactyly of finger Talipes Cleft upper lip Short palm Short foot Delayed eruption of teeth Spina bifida occulta Palpitations Hyperextensible skin Microcornea Alopecia Preauricular pit Hydroureter Trismus Eyelid coloboma Delayed eruption of primary teeth Lower eyelid coloboma Spasticity Dilatation Hydronephrosis Congenital cataract Nevus Tachycardia Nevus flammeus Immunodeficiency Deeply set eye Convex nasal ridge Laryngomalacia Acne Biparietal narrowing Everted upper lip vermilion Arrhythmia Osteopenia Apnea Round face Broad palm Splenomegaly Optic disc pallor Constipation Cerebellar hypoplasia Camptodactyly Severe global developmental delay Polymicrogyria Thick eyebrow Iris coloboma Thick vermilion border Wide intermamillary distance Specific learning disability Sloping forehead Blue sclerae Aplasia/Hypoplasia of the tongue Sparse scalp hair Pachygyria Aganglionic megacolon Long eyelashes Oligodontia Abnormality of the genitourinary system Bifid scrotum Hypoplasia of the brainstem Corneal erosion Corneal ulceration Hepatomegaly Aplasia of the pectoralis major muscle Aplasia/Hypoplasia involving the metacarpal bones Shawl scrotum Open mouth External ear malformation Broad foot Genu recurvatum Abnormality of the cervical spine Abnormal vertebral segmentation and fusion Visual impairment Skeletal muscle atrophy Dysphagia Facial palsy Corneal opacity Ophthalmoplegia Hypogonadotrophic hypogonadism Abnormality of the sense of smell Cranial nerve paralysis Reduced number of teeth Abnormality of the voice Mask-like facies Multiple cafe-au-lait spots Aplasia/Hypoplasia of the thumb Aplasia/Hypoplasia of the radius Blepharitis Abnormality of the ulna Breast aplasia Absent hand Six lumbar vertebrae



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