High palate, and Short distal phalanx of finger

Diseases related with High palate and Short distal phalanx of finger

In the following list you will find some of the most common rare diseases related to High palate and Short distal phalanx of finger that can help you solving undiagnosed cases.

Top matches:

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 (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Related symptoms:

  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER SYNDROME

Other less relevant matches:

Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about RITSCHER-SCHINZEL SYNDROME 2; RTSC2

Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.

TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3 Is also known as sugio-kajii syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3

Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

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

Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as gpibd12|glycosylphosphatidylinositol biosynthesis defect 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Top 5 symptoms//phenotypes associated to High palate and Short distal phalanx of finger

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Epicanthus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Short distal phalanx of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Brachydactyly Generalized hypotonia Delayed speech and language development Long philtrum Upslanted palpebral fissure Poor speech Cataract Muscular hypotonia Short stature Clinodactyly Micrognathia Short phalanx of finger Tapered finger Flexion contracture Wide mouth Abnormality of the dentition Hearing impairment Anteverted nares Feeding difficulties Depressed nasal bridge Limb undergrowth Bulbous nose Wide nasal bridge Abnormal facial shape Pulmonary hypoplasia Hypertelorism Scoliosis Growth delay Thin upper lip vermilion Macrotia Intellectual disability, severe

Rare Symptoms - Less than 30% cases

Downslanted palpebral fissures Short neck Congenital cataract Cleft palate Malar flattening Anonychia Atrial septal defect Broad forehead Abnormality of the skeletal system Macrocephaly Cryptorchidism Respiratory tract infection Renal agenesis Convex nasal ridge Dandy-Walker malformation Sensorineural hearing impairment Broad hallux Cerebral atrophy Intellectual disability, progressive Low anterior hairline Prominent nasal tip Small nail Prominent nose Pectus excavatum Downturned corners of mouth Thick vermilion border Neonatal hypotonia Absent speech Hyperreflexia Abnormal cardiac septum morphology Hyperactivity Short palm Osteopenia High forehead Protruding ear Camptodactyly of finger Smooth philtrum Nail dysplasia Short foot Deeply set eye Myopia Spasticity Strabismus Sparse hair Cleft lip Syndactyly Respiratory insufficiency Frontal bossing Abnormality of the nervous system Dental crowding Alopecia 2-3 toe syndactyly Limitation of joint mobility Aggressive behavior Hypermetropia Interphalangeal joint contracture of finger Cognitive impairment Decreased body weight Large hands Low-set ears Shortening of all phalanges of fingers Peripheral neuropathy Cone-shaped epiphyses of the middle phalanges of the hand Small forehead Lower limb hyperreflexia Accelerated bone age after puberty Coxa magna Restlessness Pear-shaped nose Long upper lip Multiple cafe-au-lait spots Optic atrophy Talipes calcaneovarus Alopecia areata Low frustration tolerance Furrowed tongue Prominent nasal bridge Intellectual disability, moderate Distal lower limb amyotrophy Shuffling gait Paraplegia Mandibular prognathia Autism Micropenis Falls Lower limb hypertonia Babinski sign High, narrow palate Talipes equinovarus Hypoplasia of the maxilla Facial hypotonia Decreased testicular size Diastema Spastic paraplegia Progressive spastic paraplegia Severe sensorineural hearing impairment Respiratory distress Calcific stippling of infantile cartilaginous skeleton Abdominal pain Elevated serum creatine phosphokinase Inguinal hernia Dilatation Vomiting Pregnancy exposure Bilateral cleft palate Muscular hypotonia of the trunk Coronal cleft vertebrae Multiple epiphyseal dysplasia Delayed CNS myelination Concave nasal ridge Polysplenia Severe failure to thrive Epiphyseal stippling Polyhydramnios Developmental regression Flared metaphysis Long palpebral fissure Echogenic fetal bowel Shortening of all distal phalanges of the fingers Enterocolitis Thickened helices Chronic lung disease Large earlobe Hip contracture Elevated alkaline phosphatase Hip dysplasia Disproportionate short-limb short stature Knee flexion contracture Elbow flexion contracture Aspiration Cerebral visual impairment Abnormal lung morphology Narrow forehead Sparse body hair Congenital contracture Blindness Bilateral sensorineural hearing impairment Avascular necrosis of the capital femoral epiphysis Infantile spasms Triphalangeal thumb Abnormal dermatoglyphics Abnormality of the fingernails Hypsarrhythmia High myopia Abnormality of the skin Cystic renal dysplasia Polyneuropathy Everted lower lip vermilion Nail dystrophy Coarse facial features Recurrent respiratory infections Hyporeflexia Abnormal heart morphology Hypoplasia of the iris Profound sensorineural hearing impairment Epiphyseal dysplasia Ichthyosis Spina bifida occulta Rhizomelia Abnormality of epiphysis morphology Abnormality of the metaphysis Congenital diaphragmatic hernia Polymicrogyria Flat face Dry skin Pain Pulmonic stenosis Severe global developmental delay Kyphoscoliosis Cerebral cortical atrophy Severe short stature Hernia Abnormality of metabolism/homeostasis Leukonychia Synophrys Sparse lateral eyebrow Progeroid facial appearance Arthralgia Thin skin Large fontanelles Insulin resistance Hyperpigmentation of the skin Wormian bones Osteolysis Hyperlipidemia Dermal atrophy Abnormality of the musculature Prematurely aged appearance Absent eyelashes Abnormal eyebrow morphology Lack of skin elasticity Short uvula Breast aplasia Osteolytic defects of the distal phalanges of the hand Aplasia/Hypoplasia of the clavicles Acroosteolysis of distal phalanges (feet) Ptosis Generalized tonic-clonic seizures Wide nose Full cheeks Wide intermamillary distance Open mouth Broad thumb Short thumb Adducted thumb Proptosis Fused teeth Global brain atrophy Renal hypoplasia Edema Renal insufficiency Hypospadias Polydactyly Dolichocephaly Narrow chest Micromelia Oral cleft Hepatic failure Postaxial polydactyly Renal cyst Ascites Microdontia Fine hair Short lingual frenulum Bowing of the long bones Hydrops fetalis Short ribs Short long bone Polycystic kidney dysplasia Aplasia/Hypoplasia of the eyebrow Thoracic hypoplasia Mesomelia Agenesis of permanent teeth Cystic hygroma Hypoplastic scapulae Flat acetabular roof Thoracic dysplasia Bilateral postaxial polydactyly Myopathic facies Poor eye contact Fragile nails Aplasia of the 1st metacarpal Attention deficit hyperactivity disorder Facial asymmetry Thick eyebrow Hypodontia Syncope Abnormality of the hand Obsessive-compulsive behavior Absent radius Ventricular extrasystoles Abnormality of finger Mild global developmental delay Obsessive-compulsive trait Hyperacusis Delayed skeletal maturation Gait ataxia Clinodactyly of the 5th finger Hyperlordosis Pectus carinatum Triangular face Short metacarpal Underdeveloped nasal alae Sparse and thin eyebrow Sparse eyelashes Short metatarsal Cone-shaped epiphysis Short finger Increased number of teeth Exostoses Pes planus Recurrent infections Short columella Cerebellar hypoplasia Low hanging columella High anterior hairline Thick nasal alae Small thenar eminence Frontal upsweep of hair Pseudoepiphyses Flat forehead Tented philtrum Pseudoepiphysis of the thumb Absent nail of hallux Hypoplastic thumbnail Ventricular septal defect Patent ductus arteriosus Camptodactyly Short nose Short philtrum Broad nasal tip Intestinal malrotation Low posterior hairline Wide anterior fontanel Relative macrocephaly Overlapping toe Protruding tongue Arachnoid cyst Broad neck Motor delay Dysphagia Behavioral abnormality Kyphosis EEG with multifocal slow activity


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