Brachydactyly, and Hypotelorism

Diseases related with Brachydactyly and Hypotelorism

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


Top matches:

Medium match CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

Medium match ACROFACIAL DYSOSTOSIS, WEYERS TYPE


Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.

ACROFACIAL DYSOSTOSIS, WEYERS TYPE Is also known as weyers acrodental dysostosis|acrodental dysostosis of weyers|weyers acrofacial dysostosis|curry-hall syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Brachydactyly
  • Abnormality of the dentition
  • Clinodactyly of the 5th finger


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, WEYERS TYPE

Medium match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

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Other less relevant matches:

Medium match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Medium match ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME


Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

Medium match ANAUXETIC DYSPLASIA 1; ANXD1


Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE


Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE Is also known as face

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

Medium match MONOSOMY 13Q14


Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Medium match CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

Medium match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Top 5 symptoms//phenotypes associated to Brachydactyly and Hypotelorism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Hypotelorism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Midface retrusion Protruding ear Hearing impairment Microphthalmia Wide nasal bridge Epicanthus Growth delay Short stature Hypertelorism Dolichocephaly Abnormality of cardiovascular system morphology Anteverted nares High palate Hypodontia Clinodactyly of the 5th finger High forehead Anemia Abnormal heart morphology

Rare Symptoms - Less than 30% cases


Hypoplasia of the corpus callosum Broad forehead Thin upper lip vermilion Finger syndactyly Short nose Clinodactyly Hernia Cryptorchidism Omphalocele Intrauterine growth retardation Cognitive impairment Ectodermal dysplasia Short distal phalanx of finger Cataract Generalized hypotonia Iris coloboma Flat occiput Neoplasm Single transverse palmar crease Postnatal growth retardation Short neck Fine hair Rhizomelia Thin vermilion border Short toe Sparse hair Micrognathia Osteopenia Kyphoscoliosis Osteoporosis Delayed skeletal maturation Everted lower lip vermilion Respiratory insufficiency Flexion contracture Prominent nasal bridge Holoprosencephaly Abnormal facial shape Brachycephaly Small nail Abnormal toenail morphology Conical tooth Single median maxillary incisor Trigonocephaly Wormian bones Limb undergrowth Nail dysplasia Hypermetropia Craniosynostosis Triphalangeal thumb Headache Myopia Nail dystrophy Abnormality of the dentition Sensorineural hearing impairment Abnormality of the fingernails Joint laxity Supernumerary nipple High, narrow palate Absent septum pellucidum Aplasia/Hypoplasia of the thumb Abnormality of the gastrointestinal tract Thickened helices Retinoblastoma Abnormal posturing Generalized hypopigmentation Fair hair Anteverted ears Leukocoria Stage 5 chronic kidney disease Joint hyperflexibility Hepatomegaly Abnormality of the skeletal system Blue irides Congestive heart failure Renal insufficiency Retinal dystrophy Pectus excavatum Respiratory failure Patent foramen ovale Photophobia Telecanthus Narrow chest Hepatic failure Nystagmus Wide anterior fontanel Deep philtrum Ptosis Long philtrum Intellectual disability, severe Ventricular septal defect Phenylpyruvic acidemia Delayed speech and language development Low-set ears Reduced phenylalanine hydroxylase activity Micropenis Muscular hypotonia Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Chromosomal breakage induced by crosslinking agents Complete duplication of thumb phalanx Duplicated collecting system Increased level of hippuric acid in urine Hydronephrosis Mood changes Body odor Folate deficiency Abnormal dermatoglyphics Finger clinodactyly Full cheeks Open mouth Webbed neck Hyperphenylalaninemia Muscular hypotonia of the trunk Thick eyebrow Prenatal maternal abnormality Bulbous nose Hip dislocation Microphakia Coloboma Wide mouth Nephropathy Abnormality of the metaphysis Self-mutilation Nausea Incisional hernia Renal magnesium wasting Broad toe Tubulointerstitial abnormality Short nail Dry skin Asthma Malformation of the hepatic ductal plate Delayed myelination Interstitial pneumonitis Thin nail Cerebral calcification Eczema Flattened epiphysis Abnormality of the abdominal wall Broad distal phalanges of all fingers Spasticity Coarctation of aorta Anxiety Attention deficit hyperactivity disorder Skin rash Abnormality of the liver Irritability Pruritus Abnormality of the cerebral white matter Aggressive behavior Autism Motor delay Hyperactivity Depressivity Behavioral abnormality Hypertonia Vomiting Tremor Hyperreflexia Abnormal diaphysis morphology Hepatic cysts Poor coordination Hypocalcemia Chronic kidney disease Bicuspid aortic valve Widely spaced teeth Cutis laxa Abnormality of dental enamel Obsessive-compulsive behavior Malnutrition Radial deviation of finger Short ribs Hypoplastic left heart Hepatic fibrosis Hypoplasia of dental enamel Scleroderma Iron deficiency anemia Microdontia Redundant skin Cupped ear Psychosis Taurodontia Sagittal craniosynostosis Slow-growing hair Spontaneous abortion Elevated serum creatinine Anodontia Tubulointerstitial nephritis Absent radius Scaphocephaly Abnormality of dental morphology Protuberant abdomen Fibular hypoplasia Short humerus High hypermetropia Prominent occiput Short thorax Thoracic hypoplasia Reticulocytopenia Metaphyseal dysplasia Absent thumb Hypoplasia of teeth Macrocephaly Bilateral triphalangeal thumbs Hidrotic ectodermal dysplasia Absent toenail Anhidrotic ectodermal dysplasia Selective tooth agenesis High-frequency hearing impairment Agenesis of corpus callosum Severe sensorineural hearing impairment Aplasia cutis congenita Abnormality of digit Agenesis of permanent teeth Anonychia Congenital sensorineural hearing impairment Abnormality of the hand Hydrocephalus Upslanted palpebral fissure Oligodontia Bilateral cleft lip Midline defect of the nose Median cleft lip and palate Bilateral microphthalmos Panhypopituitarism Broad face Bilateral cleft lip and palate Depressed nasal tip Median cleft lip Macrotia Partial agenesis of the corpus callosum Dental malocclusion Prominent nose Highly arched eyebrow Oral cleft Smooth philtrum Cleft lip Reduced number of teeth Gingival overgrowth Semilobar holoprosencephaly Anterior plagiocephaly Anal atresia Polydactyly Severe short stature Unicoronal synostosis Bicoronal synostosis Metopic synostosis Brachyturricephaly Cloverleaf skull Postaxial polydactyly Cleft soft palate Coronal craniosynostosis Turricephaly Increased number of teeth Visual field defect Narrow forehead Downslanted palpebral fissures Short palm Small hand Hypertrichosis Toenail dysplasia Bilateral sensorineural hearing impairment Joint hypermobility Toe syndactyly Deeply set eye Pes planus Prominent antihelix Abnormal oral frenulum morphology Advanced eruption of teeth Postaxial hand polydactyly Overlapping fingers Thoracic dysplasia Abnormality of the antihelix Postaxial foot polydactyly Facial cleft Mild short stature Hypoplastic toenails Parietal bossing Alobar holoprosencephaly Ectopic kidney Ovoid vertebral bodies J-shaped sella turcica Shallow acetabular fossae Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Small epiphyses Hypoplastic ilia Thoracic kyphosis Broad phalanx Disproportionate short stature Short finger Flared metaphysis Rocker bottom foot Metaphyseal irregularity Metaphyseal widening Elbow flexion contracture Atlantoaxial dislocation Cervical cord compression Lumbar hyperlordosis Neutropenia Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Cafe-au-lait spot Short thumb Pancytopenia Renal agenesis Bruising susceptibility Cervical subluxation Abnormality of skin pigmentation Leukemia Small for gestational age Thrombocytopenia Syndactyly Strabismus Hypoplastic iliac body Aortic valve stenosis Tetraplegia Hypoplasia of the premaxilla Retrognathia Growth abnormality Thin skin Abnormality of the skin Hypoplasia of the maxilla Recurrent fractures Delayed eruption of teeth Scarring Proptosis Dermal atrophy Hyperkeratosis Alopecia Edema Scoliosis Flat nasal alae Fusion of the left and right thalami Absent nasal septal cartilage Cachexia Pterygium Hypotrichosis Increased thyroid-stimulating hormone level Platyspondyly Hyperlordosis Mandibular prognathia Kyphosis Intellectual disability, mild Thin calvarium Narrow philtrum Osteolytic defects of the phalanges of the hand Delayed cranial suture closure Shallow orbits Narrow nose Striae distensae Prematurely aged appearance Slender long bone Lipoatrophy Long nose Maternal hyperphenylalaninemia



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