Hypertelorism, and Nail dysplasia

Diseases related with Hypertelorism and Nail dysplasia

In the following list you will find some of the most common rare diseases related to Hypertelorism and Nail dysplasia that can help you solving undiagnosed cases.

Top matches:

Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.

CRANIOSYNOSTOSIS-DENTAL ANOMALIES Is also known as kreiborg-pakistani syndrome

Related symptoms:

  • Hypertelorism
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion
  • Clinodactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS-DENTAL ANOMALIES

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Medium match SCLEROSTEOSIS

Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Other less relevant matches:

Medium match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.

ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE Is also known as rodriguez lethal acrofacial dysostosis syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

Medium match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

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

Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1 ), otopalatodigital syndrome-2 (OPD2 ), and Melnick-Needles syndrome (MNS ), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'

OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 Is also known as opd syndrome 1|opd i syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Nail dysplasia

Symptoms // Phenotype % cases
Midface retrusion Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Nail dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge Depressed nasal bridge Severe short stature Long philtrum Micrognathia Global developmental delay Finger syndactyly Frontal bossing Macrocephaly Microcephaly Proptosis Clinodactyly Syndactyly Scoliosis Short distal phalanx of finger Prominent nose Growth delay Malar flattening Dental malocclusion Downturned corners of mouth Small nail Gingival overgrowth Retrognathia Inguinal hernia Downslanted palpebral fissures Cryptorchidism Wide mouth Posteriorly rotated ears Anteverted nares Brachydactyly Short nose Fingernail dysplasia Mandibular prognathia

Rare Symptoms - Less than 30% cases

Broad thumb Bifid tongue Hypoplasia of penis Type II diabetes mellitus Broad forehead Camptodactyly of finger Feeding difficulties in infancy Anodontia Low-set, posteriorly rotated ears Clinodactyly of the 5th finger Macrotia Abnormality of cardiovascular system morphology Pectus excavatum Abnormal facial shape Generalized hypotonia Abnormality of the fingernails Triphalangeal thumb Sandal gap Microtia Postnatal growth retardation Oligodontia Small for gestational age Abnormal form of the vertebral bodies High forehead Elbow dislocation Short philtrum Deeply set eye Coxa valga Narrow mouth Intrauterine growth retardation Prominent forehead Cleft palate Short palm Deep-set nails Hip dislocation Large hands Abnormality of the dentition Talipes equinovarus Nail dystrophy Short finger Cognitive impairment Abnormality of pelvic girdle bone morphology Increased intracranial pressure Hyperostosis Increased bone mineral density Tall stature Sclerotic vertebral endplates High, narrow palate Recurrent respiratory infections Strabismus Umbilical hernia Sensorineural hearing impairment Optic atrophy Short phalanx of finger Epicanthus Overgrowth Clitoral hypoplasia Facial palsy Increased number of teeth Abnormality of the skeletal system Ptosis Adipose tissue loss Asymmetry of the breasts Thick nasal alae Abnormality of the abdominal wall Pancreatic islet-cell hyperplasia Anonychia Absence of subcutaneous fat Female pseudohermaphroditism Cystic renal dysplasia Infantile spasms Profound sensorineural hearing impairment Ovarian cyst Prominent nipples Concave nasal ridge Small face Prominent nasal tip Severe sensorineural hearing impairment Elfin facies Hypoplasia of the iris Postprandial hyperglycemia Abnormal dermatoglyphics Long foot Respiratory distress Thickened nuchal skin fold Respiratory tract infection Hearing abnormality Abnormality of the nervous system Bulbous nose Neonatal hypotonia Long penis Everted lower lip vermilion Coarse facial features Hyporeflexia Abnormal heart morphology Polyneuropathy Cerebral atrophy Blindness Myopia Severe intrauterine growth retardation Peripheral neuropathy Abnormality of the skin Delayed speech and language development Feeding difficulties Renal agenesis High palate Dandy-Walker malformation Cataract Bilateral sensorineural hearing impairment High myopia Muscular hypotonia Hypsarrhythmia Seizures Severe failure to thrive Fasting hypoglycemia Thoracic hypoplasia Intellectual disability, mild Pectus carinatum Blue sclerae Specific learning disability Hip dysplasia Hypodontia Wide nose Micromelia Upslanted palpebral fissure Hemivertebrae Alopecia Hypospadias Short neck Abnormality of the fifth metatarsal bone Long second metacarpal Lateral femoral bowing Bulbous tips of toes Long eyelashes Coxa vara Limited knee flexion Abnormality of the gingiva Naevus flammeus of the eyelid Euryblepharon Abnormality of the penis Ridged fingernail Curly eyelashes Hypoplastic labia minora Median cleft lip and palate Sacral dimple Epispadias Femoral hernia Avascular necrosis of the capital femoral epiphysis Hypoplastic labia majora Capillary hemangioma Long palpebral fissure Open bite Thick skull base Abnormality of the tarsal bones Skeletal dysplasia Congenital hip dislocation Broad hallux Proximal placement of thumb Prominent supraorbital ridges Abnormality of the genitourinary system Abnormality of the metacarpal bones Finger clinodactyly Short thumb Prominent occiput Bowing of the long bones Omphalocele Limitation of joint mobility Bifid uvula Flat face Toe syndactyly Conductive hearing impairment Reduced subcutaneous adipose tissue Limited elbow extension Accessory carpal bones Absent frontal sinuses Bipartite calcaneus Broad distal phalanx of the thumb Capitate-hamate fusion Short 3rd metacarpal Multiple impacted teeth Abnormal vertebral segmentation and fusion Hypoplastic frontal sinuses Selective tooth agenesis Thickened calvaria Short 5th metacarpal Delayed closure of the anterior fontanelle Broad face Short 4th metacarpal Short hallux Synostosis of carpal bones Dislocated radial head Lipoatrophy Short metatarsal Hypermelanotic macule Cortically dense long tubular bones Round face Joint hyperflexibility Joint stiffness Pes cavus Hypertonia Spasticity Facial palsy secondary to cranial hyperostosis Abnormality of the metaphysis Curved distal phalanges of the hand Sclerotic scapulae 2-3 finger syndactyly Trigeminal neuralgia Broad clavicles Esodeviation Fine hair Hoarse voice Diaphyseal thickening Prominent nasal bridge Radioulnar synostosis Renal hypoplasia/aplasia Microretrognathia Wide anterior fontanel Thin skin Single transverse palmar crease Coloboma Accelerated skeletal maturation Abnormally low-pitched voice Thin nail Broad foot Hypoplastic toenails Redundant skin Deep philtrum Deviation of finger Craniofacial hyperostosis Supernumerary nipple Scotoma Lambdoidal craniosynostosis Sagittal craniosynostosis Coronal craniosynostosis Turricephaly Papilledema Scaphocephaly Hallux valgus Gait disturbance 2-3 toe syndactyly Trigonocephaly Hypoplasia of the maxilla Delayed eruption of teeth Craniosynostosis Brachycephaly Flat forehead Gait ataxia Abnormality of the nose Esotropia Abnormal cortical bone morphology Broad ribs Abnormal cranial nerve morphology Constriction of peripheral visual field Anosmia Cutaneous syndactyly Paralysis Facial asymmetry Hyperactivity Visual loss Headache Nystagmus Cutaneous finger syndactyly Tetraparesis Overlapping toe Short humerus Decreased muscle mass Dysphagia Hirsutism Hypoglycemia Hyperkeratosis Delayed skeletal maturation Hernia Recurrent infections Skeletal muscle atrophy Abdominal distention Failure to thrive Hypoplastic sacrum Frontal balding Breast hypoplasia Hypoplastic pelvis Oligospermia Thick vermilion border Epidermal acanthosis Disproportionate short stature Cutis laxa Glucose intolerance Hyperglycemia Clitoral hypertrophy Precocious puberty Hyperinsulinemia Cachexia Acanthosis nigricans Thick lower lip vermilion Generalized hirsutism Gynecomastia Insulin resistance Hepatic fibrosis Cholestasis Hypertrichosis Low hanging columella Agenesis of permanent teeth Oligodactyly Hand oligodactyly Osteopenia Diabetes mellitus Absent forearm Aplasia/Hypoplasia of the ulna Arrhinencephaly Phocomelia Aqueductal stenosis Sparse hair 11 pairs of ribs Abnormality of the uterus Short tibia Sprengel anomaly Fibular hypoplasia Aplasia/Hypoplasia of the radius Developmental regression Severe global developmental delay Short femoral neck Dental crowding High pitched voice Cone-shaped epiphysis Relative macrocephaly Widely spaced teeth Azoospermia Pointed chin Waddling gait Dolichocephaly Short metacarpal Broad nasal tip Triangular face Small hand Long face Carious teeth Onychogryposis of fingernail


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