Low-set ears, and Short philtrum

Diseases related with Low-set ears and Short philtrum

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

Top matches:

Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27

Other less relevant matches:

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

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

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

Top 5 symptoms//phenotypes associated to Low-set ears and Short philtrum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Low-set ears and Short philtrum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Seizures Hypertelorism Generalized hypotonia High palate Wide nasal bridge Depressed nasal bridge Microcephaly Bulbous nose Delayed speech and language development Strabismus Cleft palate Frontal bossing Highly arched eyebrow Growth delay Long fingers Macrocephaly Thick vermilion border Deeply set eye

Rare Symptoms - Less than 30% cases

Anxiety Arachnodactyly Underdeveloped nasal alae Downturned corners of mouth Wide mouth Open mouth Cryptorchidism Hearing impairment Prominent nasal bridge Nystagmus Cerebellar hypoplasia Microphthalmia Brachycephaly Narrow forehead Small for gestational age Depressed nasal ridge Autistic behavior Low-set, posteriorly rotated ears Sparse hair Downslanted palpebral fissures Upslanted palpebral fissure Epicanthus Everted lower lip vermilion Short palpebral fissure Posteriorly rotated ears Broad forehead Failure to thrive Long face Craniosynostosis Autism Anal atresia Intrauterine growth retardation Anteverted nares Intellectual disability, mild Ptosis Short nose Midface retrusion Atrial septal defect Tented upper lip vermilion Ventricular septal defect Laryngomalacia Upper eyelid coloboma Motor delay Acne Biparietal narrowing Everted upper lip vermilion Median cleft palate Velopharyngeal insufficiency Pointed chin Convex nasal ridge Abnormality of the dentition Kyphosis High forehead Dimple chin Distichiasis Long philtrum Oral cleft Smooth philtrum Immunodeficiency Abnormality of the sacroiliac joint Abnormal cardiac septum morphology Inguinal hernia Sparse lower eyelashes Intellectual disability, moderate Cleft lip Absent eyelashes Low posterior hairline Abnormality of the upper urinary tract Scarring Synophrys Delayed myelination Self-injurious behavior Chronic constipation Periorbital fullness Lumbar scoliosis Asymmetry of the ears Hypertension Broad nasal tip Developmental regression Horizontal nystagmus Hypopigmented skin patches Redundant skin Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Prematurely aged appearance Aplasia cutis congenita Abnormal eyelash morphology Abnormal hair pattern Pectus carinatum Hyperactivity Muscular hypotonia Obsessive-compulsive behavior Agenesis of corpus callosum Proptosis Blepharophimosis Astigmatism Sleep disturbance Hypotelorism Sparse lateral eyebrow Stereotypy Exotropia Large hands Constipation Overweight Turricephaly Long foot Lacrimation abnormality Asplenia Sensorineural hearing impairment Feeding difficulties Visual impairment Absent speech Widow's peak Abnormality iris morphology Short columella Long nose Clinodactyly Short distal phalanx of finger Full cheeks Growth hormone deficiency Small nail Hypertrichosis Long eyelashes Short chin Underdeveloped supraorbital ridges Tricuspid regurgitation Proportionate short stature Abnormality of the nares Hypoplastic fifth toenail Abnormality of the columella Abnormality of the skeletal system Hydrocephalus Hyperkeratosis Platyspondyly Abnormal heart valve morphology Aortic valve stenosis Short foot Decreased body weight Intellectual disability, severe Malar flattening Severe short stature Prominent forehead Poor speech Wide nose Triangular face Broad-based gait Widely spaced teeth Dental crowding Arrhythmia Delayed skeletal maturation Abnormality of the pinna Dolichocephaly Pulmonic stenosis Joint hyperflexibility Prominent nose Abnormality of the skin Mitral valve prolapse Short palm Rhizomelia Broad neck Hirsutism Bullet-shaped distal phalanx of the hallux Talipes equinovarus Syndactyly Narrow mouth Gastroesophageal reflux Microtia Narrow chest Talipes Choanal atresia Hand clenching Wide anterior fontanel Generalized hirsutism Cutaneous syndactyly Overfolded helix Cupped ear Bilateral talipes equinovarus Prominent metopic ridge Short clavicles Abnormal oral frenulum morphology Small face Thin ribs Metaphyseal cupping of proximal phalanges Hypoplastic iliac wing Decreased skull ossification 11 pairs of ribs Metaphyseal chondrodysplasia Severe platyspondyly Metaphyseal cupping of metacarpals Distal shortening of limbs Abnormality of the calcaneus Hypoplasia of the calcaneus Central apnea Cataract Short neck Behavioral abnormality Neonatal hypotonia Coloboma Camptodactyly of finger Severe global developmental delay Toe syndactyly Interphalangeal joint contracture of finger Congenital horizontal nystagmus


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Nephropathy, related diseases and genetic alterations Neuroblastoma and Cerebellar vermis hypoplasia, related diseases and genetic alterations Tremor and Generalized tonic-clonic seizures, related diseases and genetic alterations