Delayed speech and language development, and Abnormality of the dentition

Diseases related with Delayed speech and language development and Abnormality of the dentition

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Abnormality of the dentition that can help you solving undiagnosed cases.


Top matches:

Low match CRANIOSYNOSTOSIS 7; CRS7

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

CRANIOSYNOSTOSIS 7; CRS7 Is also known as craniosynostosis 7, digenic, crs7, digenic

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Delayed speech and language development
  • Craniosynostosis
  • Neurodevelopmental delay


SOURCES: MONDO UMLS OMIM

More info about CRANIOSYNOSTOSIS 7; CRS7

Low match SECKEL SYNDROME 6; SCKL6

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS DOID OMIM MONDO

More info about SECKEL SYNDROME 6; SCKL6

Low match MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: MONDO OMIM UMLS

More info about MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

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Other less relevant matches:

Low match SHAHEEN SYNDROME; SHNS

Shaheen syndrome is an autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly (summary by Shaheen et al., 2013).

SHAHEEN SYNDROME; SHNS Is also known as ;shaheen syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Microcephaly
  • Delayed speech and language development
  • Fever


SOURCES: ORPHANET OMIM MONDO UMLS

More info about SHAHEEN SYNDROME; SHNS

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 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM MONDO GARD UMLS

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25

Low match BARDET-BIEDL SYNDROME 21; BBS21

BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Delayed speech and language development
  • Myopia
  • Blindness
  • Abnormality of the dentition


SOURCES: UMLS MONDO OMIM

More info about BARDET-BIEDL SYNDROME 21; BBS21

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Motor delay


SOURCES: GARD MONDO OMIM UMLS DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21

MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM ORPHANET DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS MONDO DOID OMIM

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Abnormality of the dentition

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Abnormality of the dentition. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Autosomal dominant inheritance Absent speech Dental crowding Generalized hypotonia Motor delay

Rare Symptoms - Less than 30% cases


Strabismus Hypertelorism Scoliosis Ataxia Hypertonia Hypodontia Fever Carious teeth Hypermetropia Retinal atrophy Ptosis Brachycephaly Downslanted palpebral fissures High palate Postaxial polydactyly Postaxial hand polydactyly Low-set ears High myopia Abnormal facial shape Fine hair Constriction of peripheral visual field Hyperautofluorescent macular lesion Reduced amplitude of dark-adapted bright flash electroretinogram a-wave Horseshoe kidney Thin upper lip vermilion Retinal thinning Hypoplasia of the fovea Cone/cone-rod dystrophy Bone marrow hypocellularity Chorioretinal atrophy EEG abnormality Narrow palate Attention deficit hyperactivity disorder Growth delay Abnormality of skin pigmentation Intellectual disability, profound Nail dystrophy Sparse hair Alopecia Constipation Cerebellar hypoplasia Midface retrusion Infantile onset Intrauterine growth retardation Failure to thrive Coarctation of aorta Synophrys Thin vermilion border Autistic behavior Patent ductus arteriosus Atrial septal defect Feeding difficulties Polydactyly Cryptorchidism Cleft palate Pointed chin Pancytopenia Long face Retinal dystrophy Choreoathetosis Elevated hepatic transaminase Hyperplasia of the maxilla Pica Anhidrosis Palmoplantar hyperkeratosis Hypohidrosis Postnatal microcephaly Hypoplasia of dental enamel Hepatitis Ectodermal dysplasia Hyperkeratosis Congenital onset Short attention span Intellectual disability, mild Open bite Amblyopia Psychosis Esotropia Poor speech Intellectual disability, severe Visual impairment Hearing impairment Neurodevelopmental delay Craniosynostosis Tics Prominent forehead Rod-cone dystrophy Athetosis Elevated serum creatine phosphokinase Obesity Blindness Myopia Focal clonic seizures Multifocal seizures Involuntary movements Cyanosis Status epilepticus Epileptic encephalopathy Abnormality of eye movement Coarse facial features Muscular hypotonia of the trunk Encephalopathy Dystonia Spasticity Long foot X-linked dominant inheritance Thick lower lip vermilion Broad nasal tip Small for gestational age Intellectual disability, moderate Kyphoscoliosis CNS hypomyelination



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