Intellectual disability, severe, and Severe short stature

Diseases related with Intellectual disability, severe and Severe short stature

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Severe short stature that can help you solving undiagnosed cases.


Top matches:

High match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP3 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 Is also known as alkylglycerone-phosphate synthase deficiency|alkyldihydroxyacetonephosphate synthase deficiency|agps deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3

High match MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE


Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

High match MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE


Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE

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Other less relevant matches:

High match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB


For a general discussion of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB Is also known as xp, group b|xpbc

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

High match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (OMIM ) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Is also known as chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency|gnpat deficiency|dihydroxyacetonephosphate acyltransferase deficiency|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|dhapat deficiency|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

High match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C


Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (OMIM ) and CDG2A (OMIM ).The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996).Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (OMIM ) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C Is also known as cdgiic|rhs|lad2|cdg iic|rambam-hasharon syndrome|leukocyte adhesion deficiency, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C

High match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5

High match BILATERAL GENERALIZED POLYMICROGYRIA


BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

High match SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME


Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

High match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Severe short stature

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Intellectual disability, severe and Severe short stature. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Flexion contracture Severe global developmental delay Growth delay Depressed nasal bridge Cataract High palate Congenital contracture Failure to thrive Micrognathia Epicanthus Rhizomelia Congenital cataract Hearing impairment Epiphyseal stippling Generalized hypotonia Scoliosis

Rare Symptoms - Less than 30% cases


Craniosynostosis Intrauterine growth retardation Sensorineural hearing impairment Short humerus Cerebellar atrophy Otitis media Severe failure to thrive Cerebral cortical atrophy Abnormal facial shape Abnormality of metabolism/homeostasis Malar flattening Recurrent infections Muscular hypotonia Frontal bossing Anxiety Decreased body weight Broad-based gait Polymicrogyria Poor speech Hypoplasia of the corpus callosum Lumbar hyperlordosis Hydrocephalus High myopia Congestive heart failure Midface retrusion Kyphosis Micromelia Respiratory failure Generalized-onset seizure Gastroesophageal reflux Brain atrophy Skeletal dysplasia Platyspondyly Epidermal acanthosis Spastic tetraparesis Short corpus callosum Pachygyria Absent speech Hypospadias Cerebellar hypoplasia Agenesis of corpus callosum EEG abnormality Intellectual disability, moderate Abnormal pyramidal sign Sloping forehead Tetraparesis Heterotopia Gray matter heterotopias Lissencephaly Unilateral renal agenesis Mild short stature Multiple joint contractures Ectopic kidney Cardiorespiratory arrest Duodenal atresia Abnormal corpus callosum morphology Abnormality of the spinal cord Pulmonary arterial hypertension Fibular bowing Exotropia Abnormality of epiphysis morphology Dry skin Ichthyosis Flat face Pulmonary hypoplasia Short distal phalanx of finger Limitation of joint mobility Limb undergrowth Congenital diaphragmatic hernia Abnormality of the metaphysis Spina bifida occulta Cleft lip Epiphyseal dysplasia Flared metaphysis Sparse body hair Polysplenia Concave nasal ridge Delayed CNS myelination Multiple epiphyseal dysplasia Coronal cleft vertebrae Bilateral cleft palate Calcific stippling of infantile cartilaginous skeleton Pulmonic stenosis Kyphoscoliosis Wide anterior fontanel Cloverleaf skull Acanthosis nigricans Sleep apnea Redundant skin Thoracic hypoplasia Mesomelia Femoral bowing Tibial bowing Abnormality of the clavicle Megalencephaly Central apnea Metaphyseal chondrodysplasia Upslanted palpebral fissure Motor delay Aplasia/Hypoplasia of the mandible Enlarged cerebellum Cleft palate Pain Respiratory insufficiency Atrial septal defect Abnormality of the dentition Hernia Alopecia Dysarthria Abnormality of the integument Cryptorchidism Retinal degeneration Abnormality of the carpal bones Lumbar scoliosis Ataxia Hyperreflexia Optic atrophy Ventriculomegaly Microphthalmia Hypogonadism Retinopathy Pigmentary retinopathy Central hypothyroidism Abnormality of the cardiovascular system Cutaneous photosensitivity Dermal atrophy Decreased nerve conduction velocity Basal cell carcinoma Freckling Basal ganglia calcification Progeroid facial appearance Squamous cell carcinoma of the skin Madelung deformity Hypoplasia of the uterus Abnormal CNS myelination Widely spaced teeth Short femur Low-set ears Prominent forehead Deeply set eye Wide mouth Short philtrum Wide nose Thick vermilion border Triangular face Obesity Primary amenorrhea Clinodactyly Delayed skeletal maturation Hypothyroidism Postnatal growth retardation Microtia Prominent nose Hip dysplasia Amenorrhea Hypotelorism Cutaneous melanoma Increased cellular sensitivity to UV light Sinus tachycardia Pes cavus Widow's peak Bronchiolitis Neutrophilia Reduction of neutrophil motility Muscle weakness Peripheral neuropathy Abnormality of the skeletal system Talipes equinovarus Hyporeflexia Sensory neuropathy Mild global developmental delay Asthma Peripheral demyelination Coxa vara Metaphyseal irregularity Short femoral neck Generalized amyotrophy Thoracic scoliosis Metaphyseal cupping Vertical nystagmus Echolalia Periodontitis Feeding difficulties Brachydactyly Anteverted nares High forehead Osteopenia Large fontanelles Abnormality of pelvic girdle bone morphology Irregular vertebral endplates Limb joint contracture Calcific stippling Stippled calcification proximal humeral epiphyses Pneumonia Cellulitis Autism Coarse facial features Bulbous nose Short foot Febrile seizures Recurrent otitis media Intellectual disability, progressive Obsessive-compulsive behavior Leukocytosis Pregnancy exposure



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