Epicanthus, and Delayed eruption of teeth

Diseases related with Epicanthus and Delayed eruption of teeth

In the following list you will find some of the most common rare diseases related to Epicanthus and Delayed eruption of teeth that can help you solving undiagnosed cases.


Top matches:

Medium match GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME


Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Medium match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Medium match INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME


Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

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Other less relevant matches:

Medium match ACRODYSOSTOSIS


Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.

ACRODYSOSTOSIS Is also known as acrodysplasia|arkless-graham syndrome|maroteaux-malamut syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS

Medium match SCALP-EAR-NIPPLE SYNDROME


Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

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 VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A


Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.VDDR2B (OMIM ) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A ).

VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A Is also known as generalized resistance to 1,25-dihydroxyvitamin d|rickets-alopecia syndrome|vitamin d-dependent rickets, type 2a, with or without alopecia|vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|hypocalcemic vitamin d-

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A

Medium match MONOSOMY 9Q22.3


Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Medium match COFFIN-SIRIS SYNDROME 6; CSS6


Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Medium match MILLER-DIEKER SYNDROME


Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

Top 5 symptoms//phenotypes associated to Epicanthus and Delayed eruption of teeth

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Epicanthus and Delayed eruption of teeth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Long philtrum Global developmental delay Short nose Depressed nasal bridge Generalized hypotonia Clinodactyly Frontal bossing Low-set ears Cataract Failure to thrive Short stature Hypertelorism Abnormality of the dentition Thick vermilion border Single transverse palmar crease Brachycephaly Kyphoscoliosis Small hand Coarse facial features Short foot Delayed speech and language development Brachydactyly Hypoplasia of the maxilla Micrognathia Clinodactyly of the 5th finger Ataxia Motor delay Pectus excavatum Prominent forehead Cleft palate Wide nasal bridge Deep philtrum Camptodactyly Cryptorchidism Macrocephaly Growth delay

Rare Symptoms - Less than 30% cases


Ptosis Accelerated skeletal maturation Thin upper lip vermilion Strabismus High forehead Polydactyly Posteriorly rotated ears Abnormality of the nail Hyperactivity Narrow palpebral fissure Sparse hair Feeding difficulties Overgrowth Sensorineural hearing impairment Atrial septal defect High palate Talipes equinovarus Mandibular prognathia Absent speech Infantile spasms Midface retrusion Cognitive impairment Cerebral cortical atrophy Talipes High anterior hairline Short neck Sparse scalp hair Hypoplasia of the corpus callosum Attention deficit hyperactivity disorder Hypertrichosis Depressed nasal ridge Muscular hypotonia Relative macrocephaly Finger syndactyly Wide nasal base Oral cleft Joint hyperflexibility Wide mouth Myopia Abnormality of cardiovascular system morphology Syndactyly Microphthalmia EEG abnormality Narrow mouth Umbilical hernia Dental crowding Telecanthus Low-set, posteriorly rotated ears Thin vermilion border Fine hair Short palpebral fissure Inguinal hernia Intrauterine growth retardation Abnormality of the skin Secondary hyperparathyroidism Large for gestational age Deformed rib cage Nephroblastoma Tall stature Trigonocephaly Arnold-Chiari malformation Bulging of the costochondral junction Abnormality of the ribs Kyphosis Retinopathy Hydrocephalus Ventriculomegaly Subperiosteal bone resorption Increased serum 1,25-dihydroxyvitamin D3 Premature loss of teeth Sparse bone trabeculae Bone pain Flat occiput Metaphyseal irregularity Rickets Elevated alkaline phosphatase Aminoaciduria Hypocalcemia Hypoplasia of dental enamel Hypophosphatemia Recurrent fractures Carious teeth Papule Irritability Difficulty walking Alopecia Abnormal vertebral segmentation and fusion Bowing of the legs Femoral bowing Enlargement of the ankles Generalized aminoaciduria Bulging epiphyses Abdominal wall muscle weakness Enlargement of the wrists Widely patent fontanelles and sutures Fibular bowing Hypocalcemic seizures Difficulty standing Alopecia universalis Tibial bowing Alopecia totalis Thin bony cortex Elevated circulating parathyroid hormone level Delayed epiphyseal ossification Protuberant abdomen Osteomalacia Hyperparathyroidism Basal cell carcinoma Short philtrum Abnormality of the vertebral column Wide nose Heterotopia Pachygyria Omphalocele Decreased fetal movement Narrow forehead Abnormality of the cardiovascular system Nephropathy Flat face Joint contracture of the hand Paraplegia Spastic paraplegia Postnatal growth retardation Polyhydramnios Upslanted palpebral fissure Agenesis of corpus callosum Abnormal heart morphology Spastic gait Lissencephaly Dysphagia Progressive spastic paraplegia Agyria Recurrent aspiration pneumonia Cavum septum pellucidum Deep palmar crease Thick upper lip vermilion Duodenal atresia Premature skin wrinkling Prominent occiput Sacral dimple Spastic diplegia Decerebrate rigidity Pelvic kidney Abnormality of upper lip Type I lissencephaly Abnormality of neuronal migration Infantile muscular hypotonia Abnormality of metabolism/homeostasis Neoplasm Medulloblastoma Cardiac fibroma Aggressive behavior Anxiety Conductive hearing impairment Retrognathia Gastroesophageal reflux Constipation Hernia Odontogenic keratocysts of the jaw High, narrow palate Plantar pits Thickened ears Ovarian fibroma Calcification of falx cerebri Palmar pits Metopic synostosis Rhabdomyosarcoma Short distal phalanx of finger Tapered finger Microcephaly Short middle phalanx of finger Testicular torsion Midline brain calcifications Diaphragmatic eventration Periventricular leukomalacia Tics Large forehead Arachnoid cyst Abnormality of the hand Broad nasal tip Plagiocephaly Finger clinodactyly Wormian bones Stereotypy Thick lower lip vermilion Small nail Dandy-Walker malformation Hip dysplasia Abnormality of the cervical spine Pyelonephritis Genu recurvatum Cerebellar atrophy Autistic behavior Hepatosplenomegaly Cerebellar hypoplasia Babinski sign Hyporeflexia Cerebral atrophy Spasticity Inability to walk Nystagmus Scoliosis 2-4 toe cutaneous syndactyly 4-5 finger syndactyly Fifth finger distal phalanx clinodactyly Macrodontia of permanent maxillary central incisor Abnormality of the cerebral white matter Macroglossia Broad long bones Abnormal form of the vertebral bodies Cone-shaped epiphysis Melanocytic nevus Short metatarsal Hypoplasia of the radius Abnormality of the metacarpal bones Short toe Open mouth Neuronal loss in central nervous system Short metacarpal Micromelia Hypogonadism Peripheral neuropathy Broad philtrum Broad face Apraxia Persistent pupillary membrane Cranial hyperostosis Open bite Widely spaced teeth Congenital, generalized hypertrichosis Thoracic kyphoscoliosis Generalized hypertrichosis Thick nasal alae Gingival fibromatosis Peritonitis Generalized hirsutism Deeply set eye Low anterior hairline Gingival overgrowth Hirsutism Thick eyebrow Bulbous nose Synophrys Macrotia Delayed skeletal maturation Toe syndactyly Cutaneous syndactyly of toes Long nose Hypoplasia of teeth Large earlobe Mild global developmental delay Spinal cord compression Narrow nose Basal ganglia calcification Hyperostosis Microcornea Abnormality of dental morphology Sparse eyelashes Abnormality of dental enamel Large fontanelles Underdeveloped nasal alae Dental malocclusion Triangular face Hypoplasia of the ulna Abnormality of immune system physiology Broad foot Ureteral duplication Bilateral camptodactyly Hypoplastic helices Bilateral renal hypoplasia Breast aplasia Small earlobe Aplasia cutis congenita of scalp Absent nipple 3-4 finger cutaneous syndactyly Aplasia/Hypoplasia of the nipples Abnormality of the endocrine system Eyelid coloboma Abnormality of the antihelix Short columella Palpebral edema Underdeveloped tragus Underdeveloped antitragus Aplasia cutis congenita Everted lower lip vermilion External ear malformation Megalocornea Shawl scrotum Broad palm Hyperextensible skin Round face Short palm Abnormality of the scalp Cleft upper lip Broad forehead Camptodactyly of finger Pes planus Behavioral abnormality Congestive heart failure Duplication of renal pelvis Hypoplastic nipples Narrow nasal bridge Spinal canal stenosis Abnormality of the kidney Nail dystrophy Microtia Coloboma Blepharophimosis Protruding ear Abnormality of the pinna Hyperhidrosis Dry skin Renal insufficiency Hypertension Abnormality of the radius Abnormality of female external genitalia Menstrual irregularities Abnormality of the ulna Epiphyseal stippling Congenital cataract Iris coloboma Multiple lipomas Abnormality of the fingernails Agenesis of permanent teeth 2-3 toe syndactyly Cupped ear Abnormality of the thorax Abnormality of the urinary system Cutaneous syndactyly Type I diabetes mellitus Vesicoureteral reflux Abnormality of the hair Hypohidrosis Recurrent urinary tract infections Renal hypoplasia Hypotelorism Renal agenesis Nail dysplasia Bitemporal hollowing



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