Delayed speech and language development, and Craniosynostosis

Diseases related with Delayed speech and language development and Craniosynostosis

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


Top matches:

High 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 CRANIOSYNOSTOSIS 4; CRS4

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). Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms.For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge
  • Delayed speech and language development


SOURCES: MONDO UMLS OMIM

More info about CRANIOSYNOSTOSIS 4; CRS4

Low match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MONDO UMLS

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

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Other less relevant matches:

Low match SWEENEY-COX SYNDROME; SWCOS

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: OMIM

More info about SWEENEY-COX SYNDROME; SWCOS

Low match RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA

RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa;

Related symptoms:

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


SOURCES: MONDO MESH OMIM ORPHANET UMLS

More info about RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA

Low match GABRIELE-DE VRIES SYNDROME; GADEVS

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME; GADEVS Is also known as ;yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM UMLS MONDO ORPHANET

More info about GABRIELE-DE VRIES SYNDROME; GADEVS

Low match MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP

MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP Is also known as polymicrogyria with seizures;pmgys;

Related symptoms:

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


SOURCES: MONDO OMIM GARD ORPHANET

More info about MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP

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

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 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS

Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated with pre- and postaxial polydactyly and variable syndactyly. The phenotype shows variable expressivity and can also include craniosynostosis. Affected individuals usually have normal psychomotor development (summary by Gorlin et al., 2001).

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS Is also known as polysyndactyly with peculiar skull shape;gcps

Related symptoms:

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


SOURCES: NCIT ORPHANET UMLS OMIM DOID MONDO MESH GARD SCTID

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS

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

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Malar flattening Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Mendelian

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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Micrognathia Autosomal recessive inheritance Short stature Autosomal dominant inheritance Frontal bossing Severe short stature Ptosis Downslanted palpebral fissures Short neck Intrauterine growth retardation Cerebellar hypoplasia Agenesis of corpus callosum Growth delay Microcephaly Seizures Absent speech Low-set ears Short metacarpal Oxycephaly Depressed nasal bridge Macrocephaly Short nose Failure to thrive Hypospadias

Rare Symptoms - Less than 30% cases


Short palm Hearing impairment Inguinal hernia Spondyloepimetaphyseal dysplasia Syndactyly Hirsutism Metaphyseal dysplasia Underdeveloped nasal alae Choanal atresia Strabismus Platyspondyly Partial agenesis of the corpus callosum Delayed skeletal maturation Scoliosis Wide nasal bridge Cutaneous syndactyly Pica Feeding difficulties Brachydactyly High palate Cognitive impairment Intellectual disability, moderate Mild short stature Motor delay Proptosis Short foot Plagiocephaly Anteverted nares Spasticity Midface retrusion Small hand Telecanthus Sloping forehead Abnormality of the clavicle Limb undergrowth Long philtrum Neurodevelopmental delay Respiratory distress Depressivity Mandibular prognathia Protruding ear Abnormal form of the vertebral bodies Short phalanx of finger Hypophosphatemia Bowing of the long bones Rhizomelia Broad foot Thoracic platyspondyly Reduced number of teeth Hypoplastic toenails Shallow orbits Failure to thrive in infancy Increased susceptibility to fractures Broad palm Short metatarsal Cortical gyral simplification Distal femoral bowing Short femoral neck Hyperlordosis Microtia Prominent forehead Autistic behavior Retrognathia Thick vermilion border Coxa vara Tented upper lip vermilion Increased body weight Femoral bowing Skull asymmetry Overlapping toe Slender long bone Delayed epiphyseal ossification Thoracolumbar scoliosis Beaking of vertebral bodies Lumbar scoliosis Small epiphyses Narrow pelvis bone Short fourth metatarsal Hypoplastic scapulae Proximal femoral epiphysiolysis Chordee Cloverleaf skull Postaxial foot polydactyly Hand polydactyly Trigonocephaly Preaxial hand polydactyly Broad hallux Hyperglycemia Preaxial polydactyly Delayed cranial suture closure Large for gestational age Cutaneous finger syndactyly Foot polydactyly Scaphocephaly Joint contracture of the hand Abnormality of digit Broad hallux phalanx Preaxial foot polydactyly Medulloblastoma Cutaneous syndactyly of toes Abnormality of muscle fibers Camptodactyly of toe Partial duplication of thumb phalanx Metopic synostosis 3-4 finger syndactyly Duplication of the distal phalanx of hand Accelerated skeletal maturation Broad thumb Renal phosphate wasting Hydrocephalus Abnormality of the nasopharynx Nasal obstruction Abnormal bone ossification Broad phalanx Broad metacarpals Broad metatarsal Pseudoarthrosis Unerupted tooth Multiple unerupted teeth Nevus Tics Intellectual disability, mild Confusion High forehead Abnormal heart morphology Polydactyly Umbilical hernia Finger syndactyly Hip dislocation Toe syndactyly Postural instability Postaxial polydactyly Postaxial hand polydactyly Congenital diaphragmatic hernia Skeletal dysplasia Generalized hypotonia Osteopenia Rod-cone dystrophy Median cleft palate Upper eyelid coloboma Pansynostosis Prominent scalp veins Ectopic posterior pituitary Craniofacial dysostosis Lambdoidal craniosynostosis Anterior plagiocephaly Ventricular septal defect Blindness Macrotia Short columella Arnold-Chiari type I malformation Nyctalopia Retinal degeneration Renal cyst Short distal phalanx of finger Cephalocele Small nail Horseshoe kidney Congenital blindness Metaphyseal chondrodysplasia Velopharyngeal insufficiency Asplenia Increased intracranial pressure Narrow chest Prominent nose Restrictive cardiomyopathy Metaphyseal sclerosis Round face Cleft palate Talipes equinovarus Pneumonia Gastroesophageal reflux Anal atresia Coloboma Talipes Broad neck Cardiomyopathy Myopathy Wide anterior fontanel Generalized hirsutism Overfolded helix Posterior plagiocephaly Cupped ear Bilateral talipes equinovarus Long fingers Prominent metopic ridge Eyelid coloboma Flat occiput Optic nerve hypoplasia Epicanthus Ectopic kidney Acrania EEG abnormality Abnormal pyramidal sign Polymicrogyria Poor speech Tetraparesis Pachygyria Heterotopia Spastic tetraparesis Lissencephaly Unilateral renal agenesis Intellectual disability, severe Multiple joint contractures Severe failure to thrive Duodenal atresia Cardiorespiratory arrest Respiratory arrest Abnormal corpus callosum morphology Periventricular gray matter heterotopia Gray matter heterotopias Abnormality of the spinal cord Short corpus callosum Cerebellar atrophy Dysarthria Ventriculomegaly Abnormality of the cerebral white matter Tremor Abnormality of the skeletal system Abnormality of the dentition Dystonia Behavioral abnormality Posteriorly rotated ears Hypothyroidism Anxiety Broad forehead Facial asymmetry Gliosis Flexion contracture Delayed myelination Waddling gait Thick lower lip vermilion Pointed chin Sparse eyebrow Esophageal atresia Periorbital fullness Lacrimal duct stenosis Mild intrauterine growth retardation Microretrognathia Encephalocele 1-3 toe syndactyly


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