Abnormal facial shape, and Abnormality of the dentition

Diseases related with Abnormal facial shape and Abnormality of the dentition

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Abnormality of the dentition that can help you solving undiagnosed cases.


Top matches:

Low match ANTERIOR SEGMENT DYSGENESIS 4; ASGD4


Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Patients with ASGD4 have been reported with iridogoniodysgenesis or Peters anomaly subtypes.Iridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by Mears et al., 1996).Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906).

ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 Is also known as iridogoniodysgenesis syndrome|iris hypoplasia with early-onset glaucoma, autosomal dominant|igds|ihga|iridogoniodysgenesis, type 2|irid2

Related symptoms:

  • Abnormal facial shape
  • Blindness
  • Abnormality of the dentition
  • Glaucoma
  • Ectopia lentis


SOURCES: OMIM MENDELIAN

More info about ANTERIOR SEGMENT DYSGENESIS 4; ASGD4

Low match ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Ectodermal dysplasia-14 of the hair/tooth type is primarily characterized by scalp hypotrichosis and hypodontia. Some patients have decreased sweating, and some show subtle facial dysmorphism (Peled et al., 2016).

Related symptoms:

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Hyperhidrosis
  • Hypotrichosis
  • Thick vermilion border


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14

Low match ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Wide nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

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Other less relevant matches:

Low match BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Hypothyroidism
  • High forehead
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2

Low match MENTAL RETARDATION, X-LINKED 19; MRX19


X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Low match FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME


Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.

FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME Is also known as fdlab syndrome|ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism|traboulsi syndrome|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Related symptoms:

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Microphthalmia
  • Visual loss
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME

Low match RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME


RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME Is also known as retinal dystrophy-juvenile cataract-short stature syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Abnormal facial shape
  • Cataract
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58

Low match SCHÖPF-SCHULZ-PASSARGE SYNDROME


Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.

SCHÖPF-SCHULZ-PASSARGE SYNDROME Is also known as palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis|eccrine tumors with ectodermal dysplasia|ssps|palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypot

Related symptoms:

  • Neoplasm
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Carcinoma


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SCHÖPF-SCHULZ-PASSARGE SYNDROME

Low match OROFACIAL CLEFT 15; OFC15


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of the dentition

Symptoms // Phenotype % cases
Hypertelorism Uncommon - Between 30% and 50% cases
Ectodermal dysplasia Uncommon - Between 30% and 50% cases
Hypodontia Uncommon - Between 30% and 50% cases
Thick vermilion border Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Abnormality of the dentition. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Wide nose Sparse eyelashes Reduced number of teeth Cleft lip Facial asymmetry Ectropion of lower eyelids Ectropion Euryblepharon Intellectual disability Short stature Generalized hypotonia Delayed speech and language development Motor delay Dental crowding Global developmental delay Upslanted palpebral fissure Wide nasal bridge Dental malocclusion Conical tooth Hypotrichosis Hyperhidrosis Ectopia lentis Hyperkeratosis Ovarian neoplasm Basal cell carcinoma Aplasia/Hypoplasia of the eyebrow Squamous cell carcinoma Palmoplantar hyperkeratosis Small nail Palmoplantar keratoderma Nail dystrophy Abnormality of the eye Carcinoma Neoplasm Alopecia Onycholysis Delayed ability to walk Incoordination Plagiocephaly Poor speech Neurological speech impairment Wide mouth Macrotia High palate Microcephaly Seizures Renal cell carcinoma Premature loss of primary teeth Ridged nail Midface retrusion Palate fistula Agenesis of lateral incisor Bilateral cleft palate High anterior hairline Bilateral cleft lip and palate Bilateral cleft lip Sparse eyebrow Single transverse palmar crease Bulbous nose Protruding ear Hernia Epicanthus Cone dysfunction syndrome Low-set ears Cryptorchidism Poroma Apocrine hidrocystoma Narrow nail Abnormality of primary teeth Bird-like facies Trichodysplasia Facial telangiectasia Thin nail Plantar hyperkeratosis Toenail dysplasia Mottled pigmentation Retinal dystrophy Widely spaced teeth Polycoria Scoliosis Posterior embryotoxon Hypoplasia of the iris Ectopia pupillae Corneal neovascularization Peters anomaly Distichiasis Anterior segment developmental abnormality Flat face Anal atresia Anterior synechiae of the anterior chamber High forehead Aniridia Hypothyroidism Thin eyebrow Agenesis of permanent teeth Hypoplastic iris stroma Oligodontia Low anterior hairline Hypertrichosis Depressed nasal bridge Hypohidrosis Low insertion of columella Oval face Iris hypopigmentation Abnormality of the skeletal system Hypotrichosis of the scalp Blindness Nyctalopia Retinopathy Rod-cone dystrophy Malar flattening Cataract Glaucoma Posterior synechiae of the anterior chamber Large beaked nose Iris atrophy Convex nasal ridge Prominent nose Intellectual disability, mild Retrognathia Visual loss Microphthalmia Long foot Thick lower lip vermilion Broad nasal tip Small for gestational age Intellectual disability, moderate Coarse facial features Kyphoscoliosis Prominent forehead Hyponasal speech



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