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, type 2;irid2, iridogoniodysgenesis syndrome;igds, iris hypoplasia with early-onset glaucoma, autosomal dominant;ihga

Related symptoms:

  • Autosomal dominant inheritance
  • Abnormal facial shape
  • Blindness
  • Coma
  • Abnormality of the dentition


SOURCES: UMLS OMIM

More info about ANTERIOR SEGMENT DYSGENESIS 4; ASGD4

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:

  • Autosomal recessive inheritance
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Downslanted palpebral fissures


SOURCES: UMLS MONDO OMIM

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

Low match FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS; FDLAB

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, AND SPONTANEOUS FILTERING BLEBS; FDLAB Is also known as traboulsi syndrome, ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism;fdlab syndrome; facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome; traboulsi syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Microphthalmia
  • Retrognathia


SOURCES: MESH UMLS MONDO OMIM ORPHANET

More info about FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS; FDLAB

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Other less relevant matches:

Low match BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2

Related symptoms:

  • Pica
  • Hypertelorism
  • Abnormal facial shape
  • High forehead
  • Hypothyroidism


SOURCES: OMIM

More info about BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2

Low match HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.

HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY Is also known as ;hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MONDO UMLS SCTID GARD DOID OMIM

More info about HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

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
  • Pica
  • Scoliosis


SOURCES: UMLS MONDO MESH OMIM

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

Low match OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae (summary by Lapunzina et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Scoliosis
  • Micrognathia
  • Motor delay


SOURCES: DOID OMIM MONDO UMLS

More info about OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

Low match BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2

Congnital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (OMIM ) or Poland syndrome (OMIM ) (summary by Papadimitriou et al., 2009).For a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see {113700}.

Related symptoms:

  • Autosomal recessive inheritance
  • Abnormal facial shape
  • Cryptorchidism
  • Anteverted nares
  • Obesity


SOURCES: UMLS OMIM MONDO

More info about BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2

Low match SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS

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.

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

Related symptoms:

  • Autosomal recessive inheritance
  • Neoplasm
  • Alopecia
  • Erythema
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MESH SCTID UMLS MONDO

More info about SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS

Low match RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME; RDJCSS

RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME; RDJCSS Is also known as ;retinal dystrophy-juvenile cataract-short stature syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Motor delay


SOURCES: ORPHANET MONDO OMIM UMLS

More info about RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME; RDJCSS

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Motor delay Uncommon - Between 30% and 50% cases
Pica Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hypertelorism 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


Broad nasal tip Ectodermal dysplasia Generalized hypotonia Widely spaced teeth Dental malocclusion Scoliosis Tics Prominent forehead Intellectual disability Hyperhidrosis Reduced number of teeth Global developmental delay Wide nose Malar flattening Downslanted palpebral fissures Depressed nasal bridge Hypodontia Small earlobe Delayed eruption of teeth Hyperkeratosis Erythema Alopecia Neoplasm Urethral stenosis Anteverted nares Absent nipple Recurrent fractures Prominent supraorbital ridges Generalized osteoporosis Bilateral single transverse palmar creases Highly arched eyebrow Single transverse palmar crease Smooth philtrum Cryptorchidism Obesity Wormian bones Palmoplantar hyperkeratosis Carcinoma Thin nail Juvenile cataract Cone dysfunction syndrome Retinal dystrophy Nyctalopia Retinopathy Upslanted palpebral fissure Rod-cone dystrophy Cataract Narrow nail Apocrine hidrocystoma Abnormality of primary teeth Bird-like facies Facial telangiectasia Trichodysplasia Premature loss of primary teeth Abnormality of the eye Toenail dysplasia Ridged nail Onycholysis Plantar hyperkeratosis Ovarian neoplasm Renal cell carcinoma Basal cell carcinoma Aplasia/Hypoplasia of the eyebrow Squamous cell carcinoma Pectus carinatum Small nail Hypotrichosis Palmoplantar keratoderma Nail dystrophy Facial asymmetry Autosomal dominant inheritance Narrow mouth Thin eyebrow Hypothyroidism High forehead Posterior synechiae of the anterior chamber Large beaked nose Iris atrophy Ectopia lentis Prominent nose Convex nasal ridge Visual loss Retrognathia Microphthalmia Agenesis of permanent teeth Cleft lip Oligodontia Sparse eyelashes Low anterior hairline Thick vermilion border Wide nasal bridge Hypoplastic iris stroma Hypoplasia of the iris Iris hypopigmentation Glaucoma Coma Blindness Anal atresia Flat face Midface retrusion Intellectual disability, mild Abnormality of cardiovascular system morphology High palate Micrognathia Long foot Dental crowding X-linked dominant inheritance Thick lower lip vermilion Small for gestational age Intellectual disability, moderate Kyphoscoliosis Coarse facial features Delayed speech and language development Ectropion Hypermethioninemia Hypertyrosinemia Poor head control Cholestasis Hepatitis Hepatic failure Cardiomyopathy Failure to thrive Euryblepharon Distichiasis Neural tube defect Conical tooth Attached earlobe



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