Delayed speech and language development, and Carious teeth

Diseases related with Delayed speech and language development and Carious teeth

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


Top matches:

High 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

High 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

High match PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 Is also known as pituitary hormone deficiency, combined, with rigid cervical spine, deafness, sensorineural, with pituitary dwarfism;non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM MONDO ORPHANET UMLS

More info about PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3

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Other less relevant matches:

High match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

High match CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD Is also known as boyadjiev-jabs syndrome;boyadjiev-jabs syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM SCTID UMLS MESH MONDO ORPHANET

More info about CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD

Medium match RUBINSTEIN-TAYBI SYNDROME 2; RSTS2

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

RUBINSTEIN-TAYBI SYNDROME 2; RSTS2 Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: MONDO OMIM ORPHANET UMLS

More info about RUBINSTEIN-TAYBI SYNDROME 2; RSTS2

Medium match ASPARTYLGLUCOSAMINURIA

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET SCTID

More info about ASPARTYLGLUCOSAMINURIA

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, debré type; arcl2, classic type; autosomal recessive cutis laxa type 2, debré type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus


SOURCES: UMLS ORPHANET SCTID

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

Medium match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S

LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017).For discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMD2A (OMIM ).

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S Is also known as ;lgmd2s

Related symptoms:

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


SOURCES: DOID ORPHANET OMIM MONDO UMLS GARD

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S

Medium match PROLIDASE DEFICIENCY

Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectasias with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by Lupi et al., 2008).

PROLIDASE DEFICIENCY Is also known as ;hyperimidodipeptiduria

Related symptoms:

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


SOURCES: GARD MONDO ORPHANET MESH OMIM NCIT SCTID

More info about PROLIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Carious teeth

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

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

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Scoliosis Hypertelorism Microcephaly Intrauterine growth retardation Downslanted palpebral fissures Abnormal facial shape Sparse hair High palate Pes planus Midface retrusion Wide nasal bridge Cryptorchidism Hearing impairment Growth delay Generalized hypotonia Micrognathia Hyperkeratosis Motor delay Hepatomegaly Short nose

Rare Symptoms - Less than 30% cases


Osteopenia Microtia Microdontia Low-set ears Anteverted nares Long philtrum Malar flattening Cleft palate Intellectual disability, mild Prominent forehead Convex nasal ridge Strabismus Spasticity Feeding difficulties Poor speech Recurrent respiratory infections Inguinal hernia Splenomegaly Hirsutism Smooth philtrum Genu valgum Delayed skeletal maturation Autosomal dominant inheritance Myopia Delayed closure of the anterior fontanelle Coarse hair Prominent nose Esotropia Pica Cataract Hyperlordosis Ataxia Constipation Cerebellar hypoplasia CNS hypomyelination Myopathy Short neck Hepatitis Skeletal dysplasia Intellectual disability, profound Congenital onset Abnormality of skin pigmentation Pain Dystonia Dysarthria Myelitis Tremor Muscle weakness Cerebellar atrophy Abnormal apolipoprotein level Renal insufficiency Hypoplasia of the zygomatic bone Asthma Fatigue Brachycephaly Congenital cataract Attention deficit hyperactivity disorder Difficulty walking Myalgia Proximal muscle weakness Elevated hepatic transaminase Cerebral cortical atrophy Cerebral atrophy Elevated serum creatine phosphokinase Elevated erythrocyte sedimentation rate Hyporeflexia Prolonged neonatal jaundice Petechiae Thick cerebral cortex Subretinal pigment epithelium hemorrhage Prominent veins on trunk Fragmented elastic fibers in the dermis Broad nasal tip Cutis laxa Congenital hip dislocation Progressive microcephaly Dandy-Walker malformation Pachygyria High myopia Polymicrogyria Redundant skin Postnatal growth retardation Dementia Diffuse telangiectasia Crusting erythematous dermatitis Aspartylglucosaminuria Anterior beaking of lumbar vertebrae Lissencephaly Lipodystrophy Abnormality of the intrinsic pathway Excessive wrinkled skin Abnormal subcutaneous fat tissue distribution Abnormality of the liver Abnormal isoelectric focusing of serum transferrin Prominent nasolabial fold Psychomotor deterioration Thick hair Redundant neck skin Facial hirsutism Generalized joint laxity Chronic lung disease White forelock Abnormality of the middle ear Infantile muscular hypotonia Decreased muscle mass Poliosis Muscular dystrophy Hepatic steatosis Abnormality of movement Thrombocytopenia Skin rash Hepatosplenomegaly Proptosis Erythema Recurrent infections Obesity Inflammatory abnormality of the skin Abnormal lung morphology Abnormality of the fingernails Abnormality of metabolism/homeostasis Edema Reduced bone mineral density Visual impairment Depressed nasal bridge Pruritus Bilateral single transverse palmar creases Milia Arachnodactyly Cutaneous photosensitivity Depressed nasal ridge Recurrent pneumonia Low posterior hairline Eczema Palmoplantar keratoderma Dry skin Generalized hirsutism Papule Abnormality of retinal pigmentation Sinusitis Lymphedema Skin ulcer Low anterior hairline Anemia Ptosis Unsteady gait Hip dysplasia Lower limb spasticity Abnormality of the immune system Inability to walk Generalized seizures Athetosis Apraxia Muscle cramps Truncal ataxia Abnormality of the hip bone Waddling gait Focal seizures Chorea Thin skin Aplasia/Hypoplasia of the skin Trophic changes related to pain Amblyopia Systemic lupus erythematosus Osteomyelitis Exophoria Recurrent ear infections Asymmetric growth Alacrima Speech apraxia Vascular skin abnormality Achalasia Gowers sign Limb-girdle muscular dystrophy Esophagitis Psoriasiform dermatitis Progressive proximal muscle weakness Impulsivity Adrenal insufficiency Abnormality of amino acid metabolism Pes valgus Large face Short palm Prolactin deficiency Abnormal anterior horn cell morphology Thoracolumbar kyphoscoliosis Hypothalamic luteinizing hormone-releasing hormone deficiency Epicanthus Hypoplasia of the corpus callosum Microphthalmia Pectus excavatum Hypospadias Upslanted palpebral fissure Posteriorly rotated ears Narrow mouth Abnormality of the pinna Blepharophimosis Flat face Lumbar kyphosis Optic atrophy Joint laxity Thin upper lip vermilion Gastroesophageal reflux Oxycephaly Frontal bossing Macrocephaly Ureterocele Tapered finger Broad neck Overfolded helix Scrotal hypoplasia Short palpebral fissure Wide intermamillary distance Microcornea Pituitary dwarfism Anterior pituitary hypoplasia Prominent nasal bridge Infantile onset Fine hair Pancytopenia Nail dystrophy Absent speech Alopecia Hypertonia Anhidrosis Sensorineural hearing impairment Palmoplantar hyperkeratosis Hypohidrosis Postnatal microcephaly Hypoplasia of dental enamel Ectodermal dysplasia Fever Bone marrow hypocellularity Abnormality of the skeletal system Gonadotropin deficiency Hyperextensible skin Adrenocorticotropic hormone deficiency Pituitary hypothyroidism Panhypopituitarism Thoracic kyphosis Hypopituitarism Increased body weight Cyanosis Kyphosis Small nail Growth hormone deficiency Joint hypermobility Jaundice Severe short stature Micropenis Wide mouth Joint hyperflexibility Abnormal cortical bone morphology Eclampsia Mandibular prognathia Behavioral abnormality Abnormality of the dentition Posterior helix pit Mild myopia Overbite Low hanging columella Arthritis Preeclampsia Overlapping toe Long nose Delayed gross motor development Broad hallux Narrow palate Coarse facial features Umbilical hernia Broad thumb Gingival overgrowth Beaking of vertebral bodies Abnormality of the ulna Macroorchidism Thickened calvaria Chronic otitis media Abnormal vertebral morphology Dyskinesia Joint stiffness Macroglossia Thick vermilion border Sleep disturbance Malabsorption Pectus carinatum Neurological speech impairment Long eyelashes Intestinal malrotation Narrow chest Hyperpigmentation of the skin Capillary hemangioma Premature loss of teeth Prominent supraorbital ridges Brittle hair Hemangioma Wide anterior fontanel Large fontanelles Hypoplasia of teeth Bifid uvula Hypoplasia of the maxilla Wide nose Delayed eruption of teeth Pulmonic stenosis Thin vermilion border Decreased skull ossification Narrow iliac wings Dental malocclusion Pneumonia Premature birth Highly arched eyebrow Autistic behavior Sporadic Autism Retrognathia Syndactyly Sutural cataract Cognitive impairment Forehead hyperpigmentation Punctate cataract Posterior wedging of vertebral bodies Posterior Y-sutural cataract High iliac wings Recurrent cystitis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Bifid uvula, related diseases and genetic alterations Optic atrophy and Bone marrow hypocellularity, related diseases and genetic alterations

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