Delayed speech and language development, and Limb undergrowth

Diseases related with Delayed speech and language development and Limb undergrowth

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


Top matches:

Low match VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2

VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017).For a discussion of genetic heterogeneity of VCRL, see VCRL1 (OMIM ).

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2 Is also known as congenital nad deficiency disorder 2, kynureninase deficiency, complete

Related symptoms:

  • Microcephaly
  • Delayed speech and language development
  • Patent ductus arteriosus
  • Syndactyly
  • Narrow chest


SOURCES: OMIM

More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2

Low 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

Low match WEISSENBACHER- ZWEYMULLER SYNDROME

Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.

WEISSENBACHER- ZWEYMULLER SYNDROME Is also known as heterozygous osmed; heterozygous otospondylomegaepiphyseal dysplasia; pierre robin sequence-fetal chondrodysplasia syndrome; pierre robin syndrome-fetal chondrodysplasia syndrome

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia
  • Cleft palate
  • Depressed nasal bridge


SOURCES: MESH GARD UMLS ORPHANET SCTID MONDO DOID

More info about WEISSENBACHER- ZWEYMULLER SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match HUNTINGTON DISEASE; HD

Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. Walker (2007) provided a detailed review of Huntington disease, including clinical features, population genetics, molecular biology, and animal models.

HUNTINGTON DISEASE; HD Is also known as huntington chorea;huntington chorea

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Pica
  • Ataxia
  • Cognitive impairment


SOURCES: ORPHANET OMIM UMLS ICD10 SCTID

More info about HUNTINGTON DISEASE; HD

Low match OSTEOGLOPHONIC DYSPLASIA; OGD

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOPHONIC DYSPLASIA; OGD Is also known as osteoglophonic dwarfism;osteoglophonic dwarfism

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Pica
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM SCTID GARD UMLS MONDO ORPHANET MESH

More info about OSTEOGLOPHONIC DYSPLASIA; OGD

Low match CHROMOSOME 17q12 DELETION SYNDROME

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

CHROMOSOME 17q12 DELETION SYNDROME Is also known as ;del(17)(q12); monosomy 17q12

Related symptoms:

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


SOURCES: UMLS DOID ORPHANET MONDO GARD OMIM

More info about CHROMOSOME 17q12 DELETION SYNDROME

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3

Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3 Is also known as glycosylphosphatidylinositol biosynthesis defect 7;gpibd7;congenital disorder of glycosylation due to pigt deficiency; mcahs type 3; multiple congenital anomalies-hypotonia-seizures syndrome type 3; pigt-cdg

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MONDO DOID ORPHANET OMIM UMLS

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3

Low match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as glycosylphosphatidylinositol biosynthesis defect 12;gpibd12

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MONDO UMLS OMIM

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Low match WIEDEMANN-STEINER SYNDROME; WDSTS

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

WIEDEMANN-STEINER SYNDROME; WDSTS Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay;hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: GARD ORPHANET MONDO UMLS MESH OMIM

More info about WIEDEMANN-STEINER SYNDROME; WDSTS

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin.For a general discussion of CDGs, see CDG Ia (OMIM ) and CDG Ib (OMIM ).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E Is also known as cdg ie;cdgie;cdg syndrome type ie; cdg-ie; cdg1e; carbohydrate deficient glycoprotein syndrome type ie; congenital disorder of glycosylation type 1e; congenital disorder of glycosylation type ie; dol-p-mannosyltransferase deficiency

Related symptoms:

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


SOURCES: NCIT SCTID ORPHANET MONDO GARD UMLS OMIM MESH

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Limb undergrowth

Symptoms // Phenotype % cases
Depressed nasal bridge Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Strabismus Downslanted palpebral fissures Intellectual disability Pica Autosomal dominant inheritance Hyperactivity Hypertelorism Generalized hypotonia Microcephaly Rhizomelia Autosomal recessive inheritance Respiratory distress Growth delay Cerebral atrophy Upper limb undergrowth High forehead Short stature Scoliosis Muscular hypotonia Cryptorchidism Failure to thrive Patent ductus arteriosus Motor delay Anteverted nares Long philtrum Malar flattening Delayed skeletal maturation Short palm EEG abnormality

Rare Symptoms - Less than 30% cases


Elevated hepatic transaminase Renal hypoplasia Depressivity Diabetes mellitus Gait ataxia Aggressive behavior Hypertrichosis Highly arched eyebrow Developmental regression Facial asymmetry Hypermetropia Knee flexion contracture Epicanthus Narrow chest Progressive neurologic deterioration Inguinal hernia Severe global developmental delay Short foot Protruding ear Mandibular prognathia Prominent forehead Short nose Osteopenia Frontal bossing Short neck Apnea Low-set ears Cerebellar atrophy Edema Schizophrenia Behavioral abnormality Anxiety Dysphagia Renal insufficiency Metaphyseal widening Myopathy Flexion contracture Muscular hypotonia of the trunk Nephrocalcinosis Elevated serum creatine phosphokinase Nystagmus Infantile onset Brachycephaly Absent speech Narrow forehead Ataxia Dilatation Stage 5 chronic kidney disease Clinodactyly Brachydactyly Pectus excavatum Tremor Abnormality of the genital system Hypertension Polyhydramnios Tics Cortical visual impairment Delayed gross motor development Atrophy/Degeneration affecting the brainstem Large for gestational age Inverted nipples Clinodactyly of the 5th finger Intellectual disability, mild Restrictive cardiomyopathy Constipation Hypoplasia of the ulna Hypercalciuria Intrauterine growth retardation Narrow mouth Deep philtrum Calcinosis Macrotia Gastroesophageal reflux Status epilepticus Intellectual disability, moderate Thin upper lip vermilion Wide nasal bridge Prominent nasal tip Abnormal facial shape Colitis Congenital cataract Bulbous nose Postnatal growth retardation Deeply set eye Wide mouth Respiratory tract infection Poor speech Abdominal pain Hip dysplasia Open mouth Elbow flexion contracture Abnormal lung morphology Elevated alkaline phosphatase Aspiration Congenital onset Ureteral stenosis 2-3 toe syndactyly Vomiting Cataract Long palpebral fissure Low alkaline phosphatase Hip contracture Large earlobe Chronic lung disease Thickened helices Enterocolitis Shortening of all distal phalanges of the fingers Echogenic fetal bowel EEG with multifocal slow activity Ptosis Telecanthus Round face Blepharophimosis Smooth philtrum Intention tremor Dental malocclusion Febrile seizures Nail dysplasia Delayed myelination Small hand High, narrow palate Dysmetria Muscular dystrophy Truncal ataxia Camptodactyly Prominent nasal bridge Abnormality of the eye Retinopathy Abnormal pyramidal sign Progressive Recurrent infections Intellectual disability, severe Postnatal microcephaly Telangiectasia Optic atrophy Ankle contracture Reduced protein C activity Reduced antithrombin III activity Abnormal macular morphology Abnormal myelination Type I transferrin isoform profile Deep venous thrombosis Pontocerebellar atrophy Prolonged partial thromboplastin time Weak cry Hemangioma Lower limb hyperreflexia Increased variability in muscle fiber diameter Flat occiput Poor suck Trigonocephaly Venous thrombosis Decreased liver function Abnormality of vision Splenomegaly Hepatomegaly Short philtrum Downturned corners of mouth Stereotypy Accelerated skeletal maturation Generalized hirsutism Short toe Long eyelashes Short palpebral fissure Growth hormone deficiency Webbed neck Hirsutism Abnormality of the hand Wide nose Tapered finger Thick eyebrow Flat face Thin vermilion border Synophrys Dolichocephaly Neurological speech impairment Sacral dimple Short finger Dilatation of renal calices Psychomotor deterioration Hyperextensibility at elbow Elbow hypertrichosis Aplasia/Hypoplasia of the ribs Small forehead Congenital, generalized hypertrichosis Low frustration tolerance Asymmetry of the thorax Anteverted ears Abnormal corpus callosum morphology Narrow palpebral fissure Broad philtrum Short attention span Abnormality of the elbow Narrow nose Bilateral ptosis Short middle phalanx of finger Broad-based gait Finger clinodactyly Generalized myoclonic seizures Recurrent urinary tract infections Renal cyst Abnormality of eye movement Brain atrophy Abnormal cerebellum morphology Chorea Infertility Gliosis Falls Cough Bradykinesia Abnormality of movement Irritability Mental deterioration Weight loss Rigidity Arthritis Dementia Neuronal loss in central nervous system Neurodegeneration Gait disturbance Restlessness Testicular atrophy Dilated fourth ventricle Chronic bronchitis Head tremor Hyperkinesis Bronchitis Hypokinesia Type II diabetes mellitus Personality changes Mania Rheumatoid arthritis Akinesia Involuntary movements Abnormality of the voice Generalized seizures Cerebral cortical atrophy Hyperreflexia Suicidal ideation Polydactyly Abnormality of the genitourinary system Short long bone Short ribs Ectodermal dysplasia Postaxial polydactyly Micromelia Rod-cone dystrophy Thoracic hypoplasia Recurrent respiratory infections Obesity Respiratory insufficiency Restrictive deficit on pulmonary function testing Hypoplastic left heart Talipes Syndactyly Short thorax Bell-shaped thorax Dysarthria Coronal cleft vertebrae Nevus Anemia Spasticity Cognitive impairment Mild neurosensory hearing impairment Submucous cleft soft palate Abnormality of the mandible Short femur Thoracic dysplasia Glossoptosis Attention deficit hyperactivity disorder Conductive hearing impairment Proptosis Myopia Cleft palate Horizontal ribs Paranoia Frequent temper tantrums Arthrogryposis multiplex congenita Renal hypoplasia/aplasia Ovarian cyst Shawl scrotum Long fingers Unilateral renal agenesis Language impairment Focal seizures with impairment of consciousness or awareness Multicystic kidney dysplasia Hyperconvex nail Horizontal nystagmus Sparse and thin eyebrow Small nail Large fontanelles Bilateral sensorineural hearing impairment Oligohydramnios Nail dystrophy Aplasia of the uterus Long toe Autism Macrocephaly Oxycephaly Osteoporosis Upslanted palpebral fissure Cerebellar hypoplasia Abnormality of the dentition Cardiomyopathy Visual impairment Ureterocele Pancreatic aplasia Ureteral atresia Aplasia of the vagina Abnormality of upper lip Hypoplasia of the bladder Subcortical cerebral atrophy Urethral stenosis Hydronephrosis Retrognathia Hypospadias Bowing of the long bones Failure to thrive in infancy Hypoplastic toenails Metaphyseal dysplasia Reduced number of teeth Short metatarsal Plagiocephaly Short phalanx of finger Broad palm Choanal atresia Abnormal form of the vertebral bodies Short metacarpal Platyspondyly Craniosynostosis Severe short stature Midface retrusion Increased susceptibility to fractures Hypophosphatemia Hearing impairment Nasal obstruction Multiple unerupted teeth Unerupted tooth Pseudoarthrosis Broad metatarsal Broad metacarpals Broad phalanx Abnormal bone ossification Abnormality of the nasopharynx Abnormality of the clavicle Chordee Renal phosphate wasting Cloverleaf skull Spondyloepimetaphyseal dysplasia Hypoplastic scapulae Broad foot Shallow orbits Reduced protein S activity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Anal atresia, related diseases and genetic alterations Fever and Dehydration, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more