Brachydactyly, and Depressed nasal ridge

Diseases related with Brachydactyly and Depressed nasal ridge

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


Top matches:

Medium match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Medium match ACRODYSOSTOSIS


Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.

ACRODYSOSTOSIS Is also known as acrodysplasia|arkless-graham syndrome|maroteaux-malamut syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS

Medium match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

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Other less relevant matches:

Medium match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Medium match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Medium match 22Q11.2 MICRODUPLICATION SYNDROME


The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

Medium match LETHAL OSTEOSCLEROTIC BONE DYSPLASIA


Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

Medium match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Medium match CRANIOFRONTONASAL DYSPLASIA


Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.

CRANIOFRONTONASAL DYSPLASIA Is also known as cfnd|cfns|craniofrontonasal syndrome|craniofrontonasal dysostosis|craniofrontonasal dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFRONTONASAL DYSPLASIA

Medium match DESBUQUOIS DYSPLASIA 1; DBQD1


Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Top 5 symptoms//phenotypes associated to Brachydactyly and Depressed nasal ridge

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Depressed nasal ridge. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


High forehead Depressed nasal bridge Low-set ears Muscular hypotonia Micrognathia Epicanthus Global developmental delay Anteverted nares Short nose Downslanted palpebral fissures Myopia Micromelia Short neck Microcephaly Seizures Prominent forehead Mandibular prognathia Respiratory distress Cleft palate High palate Hydronephrosis Abnormality of the dentition Strabismus Growth delay Intrauterine growth retardation Craniosynostosis Respiratory failure Malar flattening Abnormality of cardiovascular system morphology Clinodactyly Clinodactyly of the 5th finger Polydactyly Generalized hypotonia Scoliosis Brachycephaly Wide nasal bridge Motor delay Severe short stature Delayed eruption of teeth Microdontia Hypoplasia of penis Osteoarthritis Hypoplastic nasal bridge Cryptorchidism Short toe

Rare Symptoms - Less than 30% cases


Bowing of the long bones Joint laxity Hypoglycemia Talipes equinovarus Optic atrophy Delayed puberty Sensorineural hearing impairment Nystagmus Hyperlordosis Obesity Depressivity Failure to thrive Hypohidrosis Macrocephaly Hypercholesterolemia Pectus excavatum Reduced number of teeth Narrow mouth Proptosis Behavioral abnormality Agenesis of corpus callosum Wide mouth Wide nose Delayed skeletal maturation Sandal gap Apnea Abnormality of the pinna Broad thumb Abnormality of the face Smooth philtrum Specific learning disability Abnormality of the genitourinary system Macroglossia Flat face Joint stiffness Abnormality of the kidney Telecanthus Short metacarpal Sleep apnea Autism Hand polydactyly Blue sclerae Protuberant abdomen Thick vermilion border Underdeveloped supraorbital ridges Prematurely aged appearance Protruding ear Truncal obesity Syndactyly Long philtrum Ventricular septal defect Aplasia/Hypoplasia involving the nose Ptosis Edema Plagiocephaly Toe syndactyly Short metatarsal Abnormality of the elbow Cystic hygroma Pulmonary hypoplasia Everted lower lip vermilion Highly arched eyebrow Thoracic hypoplasia High pitched voice Abnormality of immune system physiology Muscle stiffness Renal hypoplasia Joint hyperflexibility Pterygium Tremor Postaxial hand polydactyly Hepatomegaly Facial asymmetry Recurrent respiratory infections Hydrops fetalis Omphalocele Exotropia Postaxial polydactyly Encephalocele Oral cleft Cleft upper lip Webbed neck Congenital diaphragmatic hernia Multicystic kidney dysplasia Interphalangeal joint contracture of finger Hepatic fibrosis Thickened skin Renal dysplasia Low posterior hairline Hypopigmentation of the skin Camptodactyly of finger Finger syndactyly Cerebellar hypoplasia Pancreatic fibrosis Limb undergrowth Anal atresia Abnormality of the cerebellar vermis Lymphangioma Premature graying of hair Subcortical cerebral atrophy Redundant skin Oxycephaly Cystic renal dysplasia Rib fusion Macular dystrophy Polysplenia Broad neck Generalized hyperpigmentation Cerebral cortical hemiatrophy Aplasia/Hypoplasia of the macula Pectus carinatum Hernia Upslanted palpebral fissure Enlarged kidney Cleft lip Hemivertebrae Umbilical hernia Hypospadias Hypoplasia of the corpus callosum Rigidity Ventriculomegaly Abnormality of the skeletal system Frontal bossing Extrapulmonary sequestrum Hypoplastic colon Hypoplasia of the small intestine Polyhydramnios Ascites Ridged fingernail Hypoplastic toenails Coxa vara Irregular vertebral endplates Congenital glaucoma Short femoral neck Metaphyseal widening Abnormality of the hand Genu varum Disproportionate short-limb short stature Microretrognathia Joint dislocation Generalized joint laxity Coxa valga Horseshoe kidney Rhizomelia Wide intermamillary distance Nail dysplasia Waddling gait Round face Abdominal distention Renal cyst Flat acetabular roof Short 1st metacarpal Narrow chest Bifid distal phalanx of the thumb Medial deviation of the foot Radioulnar dislocation Broad first metatarsal Proximal fibular overgrowth Multiple carpal ossification centers Supernumerary metacarpal bones Phalangeal dislocation Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Large joint dislocations Generalized osteoporosis Multiple joint dislocation Advanced ossification of carpal bones Long upper lip Vertebral clefting Hypoplastic vertebral bodies Flattened epiphysis Open angle glaucoma Broad femoral neck Coronal cleft vertebrae Short distal phalanx of finger Platyspondyly Bilateral cryptorchidism Fragile nails Anterior plagiocephaly Abnormality of the rib cage Aplasia/Hypoplasia of the nipples Bifid nasal tip Ridged nail Broad hallux phalanx Widow's peak Woolly hair Down-sloping shoulders Abnormality of hair texture Coronal craniosynostosis Abnormality of the clavicle Thickened nuchal skin fold Sprengel anomaly Shawl scrotum Curly hair Cutaneous finger syndactyly Abnormality of digit Broad hallux Breast hypoplasia Broad finger Postnatal growth retardation Kyphosis Arthritis Pes planus Skeletal dysplasia Osteopenia Kyphoscoliosis Glaucoma Osteoporosis Dilatation Immunodeficiency Hypoplastic nasal tip Midline defect of the nose Split nail Hemihypotrophy of lower limb Duplication of the distal phalanx of the thumb Unilateral breast hypoplasia Therapeutic abortion Axillary pterygium Congenital pseudoarthrosis of the clavicle Craniofacial asymmetry Decreased hip abduction Spasticity Persistent left superior vena cava Ataxia Recurrent infections Chronic diarrhea Abnormal lung morphology Eczema Progressive visual loss Growth hormone deficiency Deeply set eye Pneumonia Diarrhea Increased body weight Cognitive impairment Neoplasm Distal/middle symphalangism of 5th finger Mesoaxial foot polydactyly Symphalangism of the 5th finger Muscular ventricular septal defect Parasomnia Lymphopenia Short long bone Mesoaxial hand polydactyly Constipation Ambiguous genitalia Abnormality of movement Nausea and vomiting Spastic paraplegia Feeding difficulties in infancy Gastroesophageal reflux Cerebral cortical atrophy Blindness Keratitis Flexion contracture Anemia Lymphoid interstitial pneumonia Delayed menarche Immune dysregulation Concave nasal ridge Proportionate short stature External genital hypoplasia No permanent dentition Triangular mouth Aganglionic megacolon Abnormality of the metacarpal bones Epiphyseal stippling Spinal canal stenosis Open bite Hypoplasia of the ulna Cone-shaped epiphysis Melanocytic nevus Hypoplasia of the radius Accelerated skeletal maturation Menstrual irregularities Abnormality of the nail Abnormal form of the vertebral bodies Open mouth Hypoplasia of the maxilla Hypogonadism Peripheral neuropathy Abnormality of the endocrine system Abnormality of the skull Abnormality of the ulna Abnormality of female external genitalia Persistence of primary teeth Premature birth Short middle phalanx of the 5th finger Prominent occiput Supernumerary nipple Coarse hair Bicuspid aortic valve Finger clinodactyly Coarctation of aorta Broad nasal tip Abnormality of the radius Hypodontia Sleep disturbance Thick eyebrow Broad forehead Short philtrum Patent ductus arteriosus Intellectual disability, mild Congestive heart failure Thick lower lip vermilion Recurrent urinary tract infections Craniofacial disproportion Bulbous nose Wide anterior fontanel Gingival overgrowth Hypoplasia of dental enamel Large fontanelles Choanal atresia Cerebral calcification Downturned corners of mouth Arthrogryposis multiplex congenita Narrow palate Retrognathia Dyspnea Posteriorly rotated ears Hydrocephalus Respiratory insufficiency Dysphagia Visual impairment Bilateral trilobed lungs Increased bone mineral density Elevated alkaline phosphatase Aplasia/Hypoplasia of the thymus Gingival fibromatosis Alveolar ridge overgrowth Metaphyseal sclerosis Bilateral choanal atresia Mandibular aplasia Brachyturricephaly Long hallux Median cleft lip and palate Generalized osteosclerosis Hypophosphatemia Choanal stenosis Osteopetrosis Obstructive sleep apnea Protruding tongue Natal tooth Mixed hearing impairment Delayed cranial suture closure Hydroureter Subependymal cysts Displacement of the external urethral meatus Tented upper lip vermilion Abnormality of the male genitalia Gastrointestinal hemorrhage Poor speech Neurological speech impairment Attention deficit hyperactivity disorder Anxiety Intellectual disability, severe Delayed speech and language development Abnormality of fontanelles Stereotypy U-Shaped upper lip vermilion Abnormal hemoglobin Profound global developmental delay Volvulus Male pseudohermaphroditism Dysphasia Self-injurious behavior Encephalitis Tetralogy of Fallot Situs inversus totalis Common atrium Anomalous pulmonary venous return Anterior creases of earlobe Velopharyngeal insufficiency Urethral stenosis Total anomalous pulmonary venous return Abnormality of the pharynx Interrupted aortic arch Heterotaxy Abdominal situs inversus Narrow face Dyslexia Double outlet right ventricle Transposition of the great arteries Hypoplastic left heart Obsessive-compulsive behavior Stridor Nasal speech Laryngomalacia Splayed fingers



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Recurrent fractures, related diseases and genetic alterations Autoimmunity and Gastrointestinal hemorrhage, related diseases and genetic alterations

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