Delayed speech and language development, and Ectodermal dysplasia

Diseases related with Delayed speech and language development and Ectodermal dysplasia

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development


SOURCES: MONDO UMLS DOID OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2

Medium 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

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

Related symptoms:

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


SOURCES: DOID MONDO OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

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Other less relevant matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Cryptorchidism
  • Delayed speech and language development
  • Brachydactyly


SOURCES: MONDO UMLS OMIM DOID

More info about SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11

Medium match CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MONDO UMLS

More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Medium match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Autosomal dominant inheritance
  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Tics


SOURCES: MESH MONDO OMIM UMLS

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Low match GLASS SYNDROME; GLASS

Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor (summary by Glass et al., 1989; Urquhart et al., 2009; Rainger et al., 2014).

GLASS SYNDROME; GLASS Is also known as chromosome 2q32-q33 deletion syndrome;2q32-q33 microdeletion syndrome; del(2)(q32); del(2)(q32q33); monosomy 2q32; monosomy 2q32-q33; monosomy 2q32q33

Related symptoms:

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


SOURCES: OMIM ORPHANET GARD DOID UMLS MONDO SCTID MESH

More info about GLASS SYNDROME; GLASS

Low match TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2

Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 Is also known as langer-giedion syndrome;lgs, chromosome 8q24.1 deletion syndrome;deletion 8q24.1; langer-giedion syndrome; monosomy 8q24.1

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET MONDO UMLS OMIM GARD MESH DOID NCIT SCTID

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2

Low match GENITOPATELLAR SYNDROME; GTPTS

Genitopatellar syndrome is a rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies (summary by Penttinen et al., 2009).The SBBYS variant of Ohdo syndrome (OMIM ) is an allelic disorder with overlapping features.

GENITOPATELLAR SYNDROME; GTPTS Is also known as absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation;absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: MESH UMLS MONDO SCTID GARD ORPHANET OMIM

More info about GENITOPATELLAR SYNDROME; GTPTS

Low match FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as setleis syndrome, bitemporal forceps marks syndrome, facial ectodermal dysplasia, focal facial dermal dysplasia, type ii, formerly

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Depressed nasal bridge
  • Tics
  • Anal atresia


SOURCES: OMIM

More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Ectodermal dysplasia

Symptoms // Phenotype % cases
Autosomal dominant inheritance Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly 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 Ectodermal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Sparse hair Feeding difficulties Abnormal facial shape Short stature Sparse scalp hair Brachydactyly Autosomal recessive inheritance Fine hair Prominent nasal bridge Muscular hypotonia Long philtrum Bulbous nose Growth delay Cleft palate Talipes Scoliosis Depressed nasal bridge Abnormality of cardiovascular system morphology

Rare Symptoms - Less than 30% cases


Micrognathia Hypertelorism Fragile nails Frontal bossing Tics Low-set ears Thin skin Broad thumb Dry skin Abnormal heart morphology Syndactyly Flexion contracture Abnormality of the dentition Nevus Wide nose Hearing impairment Ventriculomegaly Bilateral talipes equinovarus Delayed puberty Dermal atrophy Short palpebral fissure Prominent nose Recurrent urinary tract infections Downturned corners of mouth Downslanted palpebral fissures Thick eyebrow Short palm Joint hyperflexibility Joint laxity Thin upper lip vermilion Osteoporosis Talipes equinovarus Intellectual disability, severe Wide nasal bridge Ventricular septal defect Conical tooth Absent speech Abnormality of the genitourinary system Strabismus Recurrent respiratory infections Anhidrotic ectodermal dysplasia Polyhydramnios Cryptorchidism Gastroesophageal reflux Hidrotic ectodermal dysplasia Anhidrosis Intellectual disability, profound Polydactyly Hypohidrosis Postnatal microcephaly Preaxial polydactyly Deep philtrum Low anterior hairline Redundant skin Abnormal palate morphology Scapular winging Recurrent upper respiratory tract infections Exostoses Cone-shaped epiphysis Scarring Increased number of teeth Joint dislocation Cone-shaped epiphyses of the phalanges of the hand Spinal cord compression Oligospermia Vaginal atresia Thick vermilion border Thick nasal alae Single transverse palmar crease Avascular necrosis of the capital femoral epiphysis Multiple exostoses Absent toe Conjunctivitis Abnormality of the sternum Bone pain Low-set, posteriorly rotated ears Incomprehensible speech Conspicuously happy disposition Narrow maxilla Agenesis of lateral incisor Narrow jaw Pica Cognitive impairment Abnormality of the skeletal system Coma Delayed skeletal maturation Macrotia Conductive hearing impairment Protruding ear Joint stiffness Finger syndactyly Bilateral single transverse palmar creases Hip dysplasia Hydrometrocolpos Aplasia cutis congenita Absent eyelashes Gynecomastia Exotropia Periorbital fullness Growth hormone deficiency Deeply set eye Vesicoureteral reflux Joint hypermobility Multiple rows of eyelashes Stroke Genu valgum Absent lower eyelashes Prune belly Patellar dislocation Mild postnatal growth retardation Clitoral hypoplasia Scrotal hypospadias Pulmonary hypoplasia Delayed eruption of teeth Full cheeks Narrow forehead Short phalanx of finger Heterotopia Intellectual disability, progressive Congenital hip dislocation Multicystic kidney dysplasia Knee flexion contracture Talipes calcaneovalgus Calcaneovalgus deformity Radioulnar synostosis Laryngomalacia Abnormality of the kidney Scrotal hypoplasia Hypoplastic ischia Clitoral hypertrophy Ectopic kidney Colpocephaly Primary hypothyroidism Hip contracture Patellar hypoplasia Anteriorly placed anus Labial hypoplasia Beaking of vertebral bodies Patellar aplasia Hypoplastic labia majora Short columella Renal cyst Severe global developmental delay Aplasia/Hypoplasia of the mandible Absent scrotum Persistent cloaca Hypoplastic ilia Rib exostoses Scapular exostoses Multiple long-bone exostoses Redundant skin in infancy Sensorineural hearing impairment Edema Dysphagia Pectus carinatum Anal atresia Atrial septal defect Hypospadias Hypoplastic inferior pubic rami Patent ductus arteriosus Arthrogryposis multiplex congenita Agenesis of corpus callosum Enlarged labia minora Upslanted palpebral fissure Abnormal bone structure Micropenis Tongue thrusting Periventricular gray matter heterotopia Coarse facial features Hypothyroidism Kyphoscoliosis Hydronephrosis Large beaked nose Apnea Nephrotic syndrome Dacryocystitis Nail dysplasia Broad toe Recurrent infections Prominent forehead Abnormal cardiac septum morphology Microdontia Widely spaced teeth Atrioventricular canal defect Premature loss of primary teeth Short digit Failure to thrive Infantile onset Splenomegaly Diarrhea Pneumonia Immunodeficiency Arthritis Nystagmus Hepatosplenomegaly Respiratory tract infection Hypodontia Bronchiectasis Chronic diarrhea Leukocytosis Agammaglobulinemia Concave nasal ridge Heat intolerance Lymphocytosis Recurrent infection of the gastrointestinal tract Periorbital wrinkles Aplasia of the sweat glands Ptosis Motor delay Horizontal ribs High palate Renal insufficiency Stooped posture Fever Congenital onset Hyperkeratosis Carious teeth Hepatitis Hypoplasia of dental enamel Palmoplantar hyperkeratosis Visual impairment Hypoplasia of the corpus callosum Constipation EEG abnormality Respiratory insufficiency Respiratory distress Thoracic dysplasia Obesity Rod-cone dystrophy Abnormality of the genital system Micromelia Narrow chest Postaxial polydactyly Stage 5 chronic kidney disease Short ribs Nephrocalcinosis Short long bone Metaphyseal widening Short thorax Thoracic hypoplasia Bell-shaped thorax Spasticity Hyperreflexia Median cleft palate Myopathic facies Convex nasal ridge Febrile seizures Dental malocclusion Dental crowding Long eyelashes Hemiparesis Microretrognathia Oligodontia Relative macrocephaly Tented upper lip vermilion Abnormality of dental morphology Broad-based gait Tibial bowing Mania Sleep disturbance Long nose Overlapping toe Abnormality of the periventricular white matter Narrow nose Restlessness Abnormality of digit Broad hallux phalanx Generalized osteoporosis Pes valgus Excessive salivation Cleft soft palate Overbite Toe clinodactyly Happy demeanor Decreased testicular size Poor speech Macrocephaly Hyperactivity Anteverted nares Malar flattening Behavioral abnormality Inguinal hernia Midface retrusion Clinodactyly of the 5th finger Hernia Posteriorly rotated ears Brachycephaly Retrognathia Narrow mouth Oxycephaly High forehead Hyperhidrosis Arachnodactyly Autism Aggressive behavior Postnatal growth retardation Anxiety Short philtrum Camptodactyly Attention deficit hyperactivity disorder Broad forehead Facial asymmetry Smooth philtrum Abnormality of the cerebral white matter Abnormality of the foot Thin vermilion border Long face Aged leonine appearance



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