Delayed speech and language development, and Postaxial polydactyly

Diseases related with Delayed speech and language development and Postaxial polydactyly

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


Top matches:

Medium match JOUBERT SYNDROME 20; JBTS20

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Respiratory insufficiency
  • Syndactyly
  • Congenital onset


SOURCES: DOID OMIM UMLS MONDO

More info about JOUBERT SYNDROME 20; JBTS20

Medium match BARDET-BIEDL SYNDROME 21; BBS21

BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Delayed speech and language development
  • Myopia
  • Blindness
  • Abnormality of the dentition


SOURCES: UMLS MONDO OMIM

More info about BARDET-BIEDL SYNDROME 21; BBS21

Medium match JOUBERT SYNDROME 24; JBTS24

Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MONDO OMIM DOID UMLS

More info about JOUBERT SYNDROME 24; JBTS24

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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

Low match OROFACIODIGITAL SYNDROME XIV; OFD14

mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

OROFACIODIGITAL SYNDROME XIV; OFD14 Is also known as ;microcephaly-cerebral malformation-orofaciodigital syndrome; ofd14; oral-facial-digital syndrome type 14

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Microcephaly
  • Cleft palate
  • Abnormal facial shape


SOURCES: ORPHANET MONDO UMLS OMIM

More info about OROFACIODIGITAL SYNDROME XIV; OFD14

Low match JOUBERT SYNDROME 10; JBTS10

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica
  • Growth delay


SOURCES: UMLS DOID MESH OMIM MONDO

More info about JOUBERT SYNDROME 10; JBTS10

Low match JOUBERT SYNDROME 14; JBTS14

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Hypertelorism


SOURCES: DOID UMLS OMIM MONDO

More info about JOUBERT SYNDROME 14; JBTS14

Low match MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1

This disorder comprises megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP ) (summary by Gripp et al., 2009). Genetic Heterogeneity the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus SyndromeSee also MPPH2 (OMIM ), caused by mutation in the AKT3 gene (OMIM ) on chromosome 1q43-q44; and MPPH3 (OMIM ), caused by mutation in the CCND2 gene (OMIM ) on chromosome 12p13.

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1 Is also known as megalencephaly, polymicrogyria, mega corpus callosum syndrome;mpph, meg-pmg-megacc syndrome, megalencephaly, mega corpus callosum, and complete lack of motor development;mpph syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MONDO UMLS MESH

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1

Low match NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES; NDMSBA

NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).

Related symptoms:

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


SOURCES: OMIM UMLS

More info about NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES; NDMSBA

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 Postaxial polydactyly

Symptoms // Phenotype % cases
Polydactyly Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Absent speech Common - Between 50% and 80% cases
Molar tooth sign on MRI Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Generalized hypotonia Seizures Postaxial hand polydactyly Hypoplasia of the corpus callosum Encephalocele Abnormal facial shape Polymicrogyria Intellectual disability, severe Nevus Cephalocele Downslanted palpebral fissures Telecanthus Pica Macrocephaly Frontal bossing Oxycephaly Hirsutism Intellectual disability, profound Hydrocephalus High forehead Nystagmus Hypertelorism Rod-cone dystrophy Respiratory insufficiency

Rare Symptoms - Less than 30% cases


Congenital onset Low-set ears Renal cyst Wide nasal bridge Ptosis Cryptorchidism Syndactyly Feeding difficulties Abnormality of digit Pneumonia Pachygyria Posteriorly rotated ears Retinopathy Epicanthus Microcephaly Obesity Growth delay Autosomal dominant inheritance Blindness Spasticity Ventriculomegaly Ataxia Muscular hypotonia of the trunk Hand polydactyly Motor delay Trigonocephaly Kyphosis Cerebral cortical atrophy Arrhythmia Encephalopathy Abnormal pyramidal sign Hyperhidrosis Rigidity Smooth philtrum Pectus carinatum Apnea Short nose Retinal atrophy Cerebellar atrophy Abnormally large globe Atrial septal defect Narrow mouth Prominent forehead Abnormal cardiac septum morphology Mitral regurgitation Knee flexion contracture Cortical dysplasia Long palpebral fissure Megalencephaly Thoracic scoliosis Dilation of lateral ventricles Edema Abnormal localization of kidney Abnormal nasal morphology Cavum septum pellucidum Thick corpus callosum Vascular ring Delayed myelination Micrognathia Failure to thrive Flexion contracture Optic atrophy Single transverse palmar crease Progressive microcephaly Abnormality of extrapyramidal motor function Foot polydactyly Accelerated skeletal maturation Cutaneous syndactyly Preaxial hand polydactyly Broad hallux Hyperglycemia Preaxial polydactyly Delayed cranial suture closure Partial agenesis of the corpus callosum Large for gestational age Cutaneous finger syndactyly Postaxial foot polydactyly Broad thumb Scaphocephaly 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 Joint contracture of the hand Confusion Tetraparesis Cognitive impairment Hypsarrhythmia Hypertrichosis Spastic tetraparesis Leukoencephalopathy Poor suck Progressive spasticity Hypomimic face Central apnea Exaggerated startle response Contractures of the large joints Progressive leukoencephalopathy Tics Congenital diaphragmatic hernia Intellectual disability, mild Inguinal hernia Hypospadias Agenesis of corpus callosum Abnormal heart morphology Umbilical hernia Craniosynostosis Finger syndactyly Hip dislocation Toe syndactyly Postural instability Ventricular septal defect Highly arched eyebrow Skeletal muscle atrophy Short ribs Renal insufficiency Respiratory distress Recurrent respiratory infections Polyhydramnios Abnormality of the genital system Micromelia Narrow chest Stage 5 chronic kidney disease Ectodermal dysplasia Nephrocalcinosis Short stature Short long bone Abnormality of the genitourinary system Metaphyseal widening Short thorax Thoracic hypoplasia Bell-shaped thorax Thoracic dysplasia Horizontal ribs Cleft palate Brachydactyly Agenesis of cerebellar vermis Abnormality of the dentition Infantile onset Chorioretinal atrophy Hypoplasia of the fovea Retinal thinning Reduced amplitude of dark-adapted bright flash electroretinogram a-wave Hyperautofluorescent macular lesion Cone/cone-rod dystrophy Horseshoe kidney High myopia Hyperreflexia Gait disturbance Adactyly Talipes equinovarus Cerebellar hypoplasia Talipes Hypermetropia Hypodontia Dysmetria Retinal dystrophy Mutism Elevated hepatic transaminase Elevated serum creatine phosphokinase Upslanted palpebral fissure Visual impairment Constriction of peripheral visual field Strabismus Hypertension Malar flattening Microphthalmia Short philtrum Coloboma Prominent nasal bridge Deeply set eye Irritability Open mouth Enlarged cisterna magna Dandy-Walker malformation Tented upper lip vermilion Retinal coloboma Occipital encephalocele Meningocele Multiple renal cysts Breathing dysregulation Morning glory anomaly Depressed nasal bridge Infra-orbital crease Deep philtrum Retrognathia Myopia Micropenis Microretrognathia Hamartoma Increased number of teeth Arachnoid cyst Bifid tongue Lobulated tongue Hamartoma of tongue Aplasia of the epiglottis Self-mutilation Aggressive behavior Abnormal retinal morphology Oculomotor apraxia Apraxia X-linked recessive inheritance Recurrent infections EEG abnormality Feeding difficulties in infancy Thick vermilion border Cerebellar vermis hypoplasia 1-3 toe syndactyly



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