Delayed speech and language development, and Platyspondyly

Diseases related with Delayed speech and language development and Platyspondyly

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


Top matches:

Low match OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Motor delay


SOURCES: DOID UMLS OMIM MONDO

More info about OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17

Low match GM1-GANGLIOSIDOSIS, TYPE III

GM1-gangliosidosis type III is an autosomal recessive lysosomal storage disorder characterized by neurodegeneration and mild skeletal changes. Age at onset ranges from 3 to 30 years. The disorder is less severe than GM1-gangliosidosis types I and II (OMIM ). Type III shows extreme clinical variability, with some patients having only focal neurologic signs, such as dystonia, and others having more severe involvement with extrapyramidal signs and mental retardation. GLB1 enzymatic activity usually ranges from approximately 4 to 10% of control values (Suzuki et al., 2001).

GM1-GANGLIOSIDOSIS, TYPE III Is also known as gangliosidosis, generalized gm1, adult type, gangliosidosis, generalized gm1, chronic type, gangliosidosis, generalized gm1, type iii, gangliosidosis, generalized gm1, type 3;adult-onset gm1 gangliosidosis

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis


SOURCES: OMIM GARD UMLS SCTID ORPHANET MONDO

More info about GM1-GANGLIOSIDOSIS, TYPE III

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET UMLS OMIM MONDO

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA

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Other less relevant matches:

Low match GERODERMA OSTEODYSPLASTICUM; GO

Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.

GERODERMA OSTEODYSPLASTICUM; GO Is also known as gerodermia osteodysplastica, walt disney dwarfism;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: SCTID MESH OMIM ORPHANET MONDO GARD UMLS

More info about GERODERMA OSTEODYSPLASTICUM; GO

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 FUCOSIDOSIS

Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex.Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976).

FUCOSIDOSIS Is also known as alpha-l-fucosidase deficiency

Related symptoms:

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


SOURCES: OMIM

More info about FUCOSIDOSIS

Low match ASPARTYLGLUCOSAMINURIA; AGU

Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycosylasparaginase deficiency, aspartylglucosaminidase deficiency, aga deficiency, glycoasparaginase, aspartylglycosaminuria

Related symptoms:

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


SOURCES: NCIT OMIM

More info about ASPARTYLGLUCOSAMINURIA; AGU

Low match OSTEOGENESIS IMPERFECTA, TYPE XV; OI15

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 Is also known as oi, type xv

Related symptoms:

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


SOURCES: DOID OMIM MONDO UMLS

More info about OSTEOGENESIS IMPERFECTA, TYPE XV; OI15

Low match COLE-CARPENTER SYNDROME 2; CLCRP2

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Pica
  • Hypertelorism
  • Motor delay


SOURCES: MONDO UMLS OMIM

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Low match EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; EDSP2

The features of the progeroid form of Ehlers-Danlos syndrome include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).Also see Ehlers-Danlos syndrome with short stature and limb anomalies (EDSSLA ).

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MONDO UMLS

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; EDSP2

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Motor delay Uncommon - Between 30% and 50% cases
Mendelian

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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Generalized hypotonia Microcephaly Pica Hypertelorism Delayed skeletal maturation Depressed nasal bridge Short neck Malar flattening Beaking of vertebral bodies Severe short stature Osteopenia Craniosynostosis Spasticity Hernia Recurrent fractures Blue sclerae Angiokeratoma Frontal bossing Kyphosis Seizures Vertebral compression fractures Kyphoscoliosis Muscular hypotonia Hip dislocation

Rare Symptoms - Less than 30% cases


Thick lower lip vermilion Midface retrusion Metaphyseal dysplasia Visceromegaly Inguinal hernia Thin ribs Spondyloepimetaphyseal dysplasia Anterior beaking of lumbar vertebrae Anteverted nares Cutis laxa Pectus excavatum Downslanted palpebral fissures Failure to thrive Progressive neurologic deterioration Abnormal facial shape Abnormal bone ossification High palate Femoral bowing Short nose Hyperextensible skin Macroglossia Low-set ears Oligosacchariduria Osteoporosis Skeletal muscle atrophy Joint laxity Vacuolated lymphocytes Intellectual disability, mild Dystonia Short metacarpal Mandibular prognathia Short palm Mental deterioration Hepatomegaly Wide nose Angiokeratoma corporis diffusum Cerebral atrophy Recurrent respiratory infections Abnormal form of the vertebral bodies Prominent forehead Coarse facial features Developmental regression Thin skin Dysostosis multiplex Bowing of the long bones Proptosis Abnormality of temperature regulation Cervical platyspondyly Elevated sweat chloride Absent/hypoplastic paranasal sinuses Tortuosity of conjunctival vessels Absent/hypoplastic coccyx Anterior beaking of thoracic vertebrae Cataract Myopathy Edema Intellectual disability, severe Generalized limb muscle atrophy Cognitive impairment Abnormality of the abdominal wall Thick eyebrow Broad metatarsal Pseudoarthrosis Unerupted tooth Multiple unerupted teeth Hearing impairment Flexion contracture Hyperreflexia Tics Splenomegaly Absent speech Skin rash Dry skin Shield chest Polyneuropathy Lumbar hyperlordosis Neurodegeneration Spastic tetraplegia Abnormality of metabolism/homeostasis Hypohidrosis Epiphyseal dysplasia Cardiomegaly Coxa valga Anhidrosis Barrel-shaped chest Cardiomyopathy Wide mouth Diarrhea Microretrognathia Aspartylglucosaminuria Cerebellar hypoplasia Autism Arnold-Chiari malformation Hypoplasia of the pons Cerebellar agenesis Macrocephaly Ventriculomegaly Hydrocephalus Retrognathia Oxycephaly Postnatal growth retardation Triangular face Oligohydramnios Reduced bone mineral density Methemoglobinemia High pitched voice Turricephaly Coronal craniosynostosis Decreased skull ossification Lambdoidal craniosynostosis Fractures of the long bones Cleft palate Talipes equinovarus Sparse hair Flat face Decreased body weight Flared metaphysis Carpal synostosis Long upper lip Angiofibromas Spondylolysis Behavioral abnormality Gingival overgrowth Recurrent infections Brachycephaly Erythema Gait ataxia Hyperactivity Hydronephrosis Hepatosplenomegaly Broad phalanx Neutropenia Gliosis Generalized myoclonic seizures Neuronal loss in central nervous system Psychosis Mitral regurgitation Chronic diarrhea Hypoplastic frontal sinuses Thickened calvaria Cranial asymmetry Adenoma sebaceum Abnormality of the ovary Spondylolisthesis Broad face Macroorchidism Pathologic fracture Overgrowth Acne Fibroma Emotional lability Aspiration Hoarse voice Intellectual disability, progressive Broad metacarpals Rhizomelia Nasal obstruction Autistic behavior Thin metacarpal cortices Strabismus Ptosis Intraventricular hemorrhage Epicanthus Thoracic kyphosis Soft skin Syringomyelia Vertebral fusion Skeletal dysplasia Hyperlordosis Decreased muscle mass Microtia Thick vermilion border Decreased beta-galactosidase activity Coxa vara Tented upper lip vermilion Increased body weight Short femoral neck Overlapping toe Slender long bone Delayed epiphyseal ossification Thoracolumbar scoliosis Lower limb muscle weakness Lumbar scoliosis Small epiphyses Narrow pelvis bone Short fourth metatarsal Dysplasia of the femoral head Stuttering Skull asymmetry Abnormality of the face Tremor Hypertonia Pes cavus Dilatation Myoclonus Rigidity Clonus Parkinsonism Chorea Urinary incontinence Intention tremor Tetraparesis Athetosis Opacification of the corneal stroma Hypoplastic acetabulae Spastic tetraparesis Generalized amyotrophy Slurred speech Abnormality of blood and blood-forming tissues Hyperactive deep tendon reflexes Progressive spasticity Generalized dystonia Loss of speech Diffuse cerebral atrophy Flared iliac wings Foam cells Facial grimacing Ataxia Proximal femoral epiphysiolysis Distal femoral bowing Abnormality of the nasopharynx Plagiocephaly Cryptorchidism Brachydactyly Muscle weakness Long philtrum Hypospadias Respiratory distress Depressivity Protruding ear Short foot Limb undergrowth Choanal atresia Short phalanx of finger Dysarthria Short metatarsal Autosomal dominant inheritance Reduced number of teeth Hypoplastic toenails Failure to thrive in infancy Increased susceptibility to fractures Broad palm Hypophosphatemia Abnormality of the clavicle Shallow orbits Broad foot Hypoplastic scapulae Cloverleaf skull Renal phosphate wasting Chordee Micrognathia Stooped posture Thoracic platyspondyly Abnormality of epiphysis morphology Growth delay Milia Pes planus EEG abnormality Abnormality of the eye Camptodactyly Pectus carinatum Deeply set eye Joint hyperflexibility Talipes Microcornea Hypoplasia of the maxilla Dental malocclusion Congenital hip dislocation Pseudoepiphyses Wormian bones Abnormality of vision Redundant skin Abnormality of the outer ear Tibial bowing Prematurely aged appearance Irregular vertebral endplates Protuberant abdomen Progeroid facial appearance Periodontitis Premature skin wrinkling Hyperextensibility of the finger joints Biconcave vertebral bodies Advanced ossification of carpal bones


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