Low-set ears, and Cleft upper lip

Diseases related with Low-set ears and Cleft upper lip

In the following list you will find some of the most common rare diseases related to Low-set ears and Cleft upper lip that can help you solving undiagnosed cases.

Top matches:

Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018).For a discussion of genetic heterogeneity of TETAMS, see {273395}.

TETRAAMELIA SYNDROME 2; TETAMS2 Is also known as tetraamelia syndrome 2 with pulmonary agenesis

Related symptoms:

  • Micrognathia
  • Low-set ears
  • Ventricular septal defect
  • Cleft lip
  • Oral cleft


SOURCES: OMIM MENDELIAN

More info about TETRAAMELIA SYNDROME 2; TETAMS2

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

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

Other less relevant matches:

Medium match HYDROLETHALUS

Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

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

Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Medium match TETRA-AMELIA

Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). Genetic Heterogeneity of tetraamelia syndromeTetraamelia syndrome-2 (TETAMS2 ) is caused by mutation in the RSPO2 gene (OMIM ) on chromosome 8q23.

TETRA-AMELIA Is also known as total amelia|tetraamelia syndrome, autosomal recessive

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cataract
  • Low-set ears
  • Hydrocephalus


SOURCES: OMIM ORPHANET MENDELIAN

More info about TETRA-AMELIA

OROFACIODIGITAL SYNDROME XVII; OFD17 Is also known as ofds xvii|oral-facial-digital syndrome, type xvii

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVII; OFD17

Top 5 symptoms//phenotypes associated to Low-set ears and Cleft upper lip

Symptoms // Phenotype % cases
Cleft lip Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Agenesis of corpus callosum Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Low-set ears and Cleft upper lip. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Polydactyly Microphthalmia Cryptorchidism Renal dysplasia Hydrocephalus Hypertelorism Oral cleft Abnormality of the pinna Abnormality of the kidney Midface retrusion Pulmonary hypoplasia Retrognathia Short neck Abnormality of cardiovascular system morphology Bilateral cleft lip

Rare Symptoms - Less than 30% cases

Ventricular septal defect Anophthalmia Cataract High palate Polycystic kidney dysplasia Anal atresia Deeply set eye Postaxial hand polydactyly Micromelia Bifid uvula Scoliosis Renal hypoplasia Submucous cleft hard palate Anencephaly Global developmental delay Ventriculomegaly Malar flattening Adrenal hypoplasia Micropenis Postaxial polydactyly Wide intermamillary distance Depressed nasal ridge Tetraamelia Abnormal sacrum morphology Narrow chest Hearing impairment Renal agenesis Short nose Holoprosencephaly Talipes equinovarus Epicanthus Microcephaly Vaginal atresia Abnormality of the vertebral column Low posterior hairline Spina bifida Renal hypoplasia/aplasia Hemiplegia/hemiparesis Vertebral fusion Tracheoesophageal fistula Sprengel anomaly Abnormal cranial nerve morphology Breech presentation Non-midline cleft lip Ectopic anus Abnormal intestine morphology Abnormality of the genitourinary system Bicornuate uterus Sensorineural hearing impairment Abnormality of the ribs Sirenomelia Unilateral renal agenesis Cognitive impairment Conductive hearing impairment Facial asymmetry Fetal polyuria Bilateral renal dysplasia Urethral obstruction Abnormality of female internal genitalia Potter facies Urogenital fistula Flat face Nonketotic hypoglycemia Bilateral renal hypoplasia Webbed neck Bilateral renal agenesis Fused cervical vertebrae Amniotic constriction ring Short sternum Short ribs Short stature Delayed speech and language development Clinodactyly Prominent forehead High, narrow palate Prominent nose Dental malocclusion Tetralogy of Fallot Decreased body weight CNS hypomyelination Adrenal gland agenesis Abnormality of digit Prominent metopic ridge Inverted nipples Median cleft lip Clubbing of fingers Bifid tongue Partial duplication of thumb phalanx Short 2nd finger Short middle phalanx of the 2nd finger Peripheral pulmonary vessel aplasia Hypoplasia of the fallopian tube Abnormality of the shoulder Single umbilical artery Congenital muscular torticollis Aplasia of the ulna Cervical C2/C3 vertebral fusion Abnormal vertebral segmentation and fusion Decreased cervical spine mobility Limited neck range of motion Patent ductus arteriosus Choanal atresia Abnormality of the genital system Asplenia Tetraphocomelia Hypoplastic pelvis Long penis Phocomelia Gastroschisis Abnormality of the diaphragm Urethral atresia Amelia Absent external genitalia Single naris Multicystic kidney dysplasia Cerebellar hypoplasia Primary amenorrhea Laryngomalacia Pericardial effusion Occipital encephalocele Enlarged kidney Hyperechogenic kidneys Equinovarus deformity Polyhydramnios Low-set, posteriorly rotated ears Premature birth Absent septum pellucidum Abdominal distention Abnormality of the respiratory system Arrhinencephaly Unilateral cleft lip Abnormality of the sense of smell Abnormality of the fallopian tube Tracheal atresia Gingival cleft Brachydactyly Encephalocele Broad forehead Abnormality of the skeletal system Single transverse palmar crease Microretrognathia Ankyloglossia Bilateral lung agenesis Hypoplastic pulmonary veins Hernia Upslanted palpebral fissure Protruding ear Bulbous nose Sparse eyelashes Hyponasal speech Sparse eyebrow Ectropion Bilateral cleft lip and palate High anterior hairline Ectropion of lower eyelids Euryblepharon Bilateral cleft palate Agenesis of lateral incisor Palate fistula Wide nasal bridge Syndactyly Oligohydramnios Single ventricle Hypotelorism Exotropia Diabetes insipidus Narrow nasal bridge Chronic constipation Median cleft lip and palate Single median maxillary incisor Cyclopia Proboscis Astigmatism Hypoplastic philtrum Absent nasal septal cartilage Aplasia of the nose Anterior pituitary agenesis Hypertension Proteinuria Talipes Falls Microcornea Coloboma Hypospadias Microphallus Ambiguous genitalia Sandal gap Aplasia/Hypoplasia of the corpus callosum Scrotal hypoplasia Depressed nasal tip Barrel-shaped chest Shield chest Ulnar deviation of the hand Ulnar deviation of the hand or of fingers of the hand Constipation Intellectual disability Seizures Generalized hypotonia Nystagmus Strabismus Muscular hypotonia Ptosis Macrocephaly Anteverted nares Central Y-shaped metacarpal


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