Delayed speech and language development, and Polydactyly

Diseases related with Delayed speech and language development and Polydactyly

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


Top matches:

Low match NEPHRONOPHTHISIS 20; NPHP20

Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Rod-cone dystrophy


SOURCES: OMIM DOID MONDO UMLS

More info about NEPHRONOPHTHISIS 20; NPHP20

Low 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

Low match MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS

MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.

MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS Is also known as morm syndrome;intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome; mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cataract


SOURCES: ORPHANET GARD SCTID UMLS MONDO OMIM MESH

More info about MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS

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Other less relevant matches:

Low match BARDET-BIEDL SYNDROME 13; BBS13

BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitch et al., 2008; Xing et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Obesity


SOURCES: DOID MESH UMLS OMIM MONDO

More info about BARDET-BIEDL SYNDROME 13; BBS13

Low 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

Low match RETINITIS PIGMENTOSA 71; RP71

Related symptoms:

  • Autosomal recessive inheritance
  • Scoliosis
  • Delayed speech and language development
  • Blindness
  • Abnormality of the skeletal system


SOURCES: OMIM UMLS

More info about RETINITIS PIGMENTOSA 71; RP71

Low 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

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 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD

gene, localised to the p11.21 region of the X chromosome.

SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD Is also known as mental retardation, x-linked, syndromic, siderius type, siderius-hamel syndrome;

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cryptorchidism
  • Nevus
  • Delayed speech and language development


SOURCES: ORPHANET MONDO GARD DOID OMIM UMLS MESH

More info about SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD

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

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Obesity Uncommon - Between 30% and 50% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Abnormal facial shape Global developmental delay Scoliosis Molar tooth sign on MRI

Rare Symptoms - Less than 30% cases


Micropenis Short stature Cryptorchidism Microcephaly Postaxial hand polydactyly Nevus Blindness Elevated hepatic transaminase Congenital onset Upslanted palpebral fissure Respiratory insufficiency Retinal dystrophy Stage 5 chronic kidney disease Renal cyst Retinopathy Thoracic dysplasia Bell-shaped thorax Synophrys Horizontal ribs Intellectual disability, mild X-linked recessive inheritance Pes planus Autism Atrial septal defect Nephrocalcinosis Thoracic hypoplasia Short thorax Metaphyseal widening Abnormality of the genitourinary system Short long bone Autistic behavior Short ribs Ectodermal dysplasia Narrow chest Micromelia Abnormality of the genital system Polyhydramnios Recurrent respiratory infections Respiratory distress Renal insufficiency Cleft lip Preaxial polydactyly Cleft upper lip Cleft palate Hamartoma of tongue Lobulated tongue Bifid tongue Arachnoid cyst Increased number of teeth Hamartoma Trigonocephaly Hand polydactyly Microretrognathia Telecanthus Retrognathia Hypoplasia of the corpus callosum Intellectual disability, severe Long toe Long face Bilateral cleft lip Bilateral cleft lip and palate Thoracic kyphosis Slender finger Preaxial hand polydactyly Large hands Prominent supraorbital ridges Nasal speech Oral cleft Sloping forehead Low posterior hairline Broad nasal tip Decreased testicular size Brachydactyly Talipes equinovarus Agenesis of cerebellar vermis Childhood-onset truncal obesity Hypoplasia of the fovea Chorioretinal atrophy Constriction of peripheral visual field Retinal atrophy Cone/cone-rod dystrophy Horseshoe kidney High myopia Hypodontia Elevated serum creatine phosphokinase Abnormality of the dentition Myopia Pica Truncal obesity Reduced amplitude of dark-adapted bright flash electroretinogram a-wave Intellectual disability, moderate Tics Visual impairment Cataract Self-mutilation Abnormal retinal morphology Oculomotor apraxia Apraxia Aggressive behavior Syndactyly Nephronophthisis Situs inversus totalis Progressive Retinal thinning Hyperautofluorescent macular lesion Adactyly Hyperreflexia Abnormality of digit Cephalocele Mutism Pachygyria Encephalocele Dysmetria Polymicrogyria Hypermetropia Talipes Cerebellar hypoplasia Gait disturbance Infantile onset Spasticity Abnormality of the skeletal system Nystagmus Ataxia Generalized hypotonia Macular hole Epiretinal membrane Drusen Attenuation of retinal blood vessels Pancreatitis Hypercholesterolemia Lymphopenia Recurrent pneumonia Optic disc pallor Nyctalopia Aplasia of the epiglottis



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