Brachydactyly, and Delayed puberty

Diseases related with Brachydactyly and Delayed puberty

In the following list you will find some of the most common rare diseases related to Brachydactyly and Delayed puberty 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 INSULIN-RESISTANCE SYNDROME TYPE A


Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

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

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Other less relevant matches:

Medium match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Medium match NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

Low match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

Low match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Low match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

Low match TRICHORHINOPHALANGEAL SYNDROME TYPE 2


Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2

Low match GENITOPATELLAR SYNDROME


Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

GENITOPATELLAR SYNDROME Is also known as absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GENITOPATELLAR SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Delayed puberty

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Obesity

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Muscular hypotonia Growth delay Hypertelorism Microcephaly Joint laxity Hearing impairment Wide nasal bridge Ventriculomegaly Cleft palate Downslanted palpebral fissures Delayed speech and language development High forehead Short palm Global developmental delay Delayed skeletal maturation Prominent nose Short philtrum Hypothyroidism Depressed nasal bridge Severe short stature Micropenis Failure to thrive Syndactyly Generalized hypotonia Short nose Behavioral abnormality Deeply set eye Growth hormone deficiency Joint hyperflexibility Motor delay Strabismus Joint hypermobility Cryptorchidism Short foot Truncal obesity Osteoarthritis Gait disturbance Intellectual disability, mild Delayed eruption of teeth Abnormality of cardiovascular system morphology Pes planus Hypercholesterolemia Mandibular prognathia Hypoplasia of penis

Rare Symptoms - Less than 30% cases


Abnormality of the skeletal system Kyphosis Alopecia Myopia Inguinal hernia Abnormal heart morphology Epicanthus Hypertension Anemia Ptosis Short neck Sensorineural hearing impairment Pain Self-injurious behavior Brachycephaly Downturned corners of mouth Ventricular septal defect Polymicrogyria Abnormality of the genital system Flexion contracture Exostoses Upslanted palpebral fissure Single transverse palmar crease Broad forehead Hyperactivity Prominent nasal bridge Anteverted nares Attention deficit hyperactivity disorder Conductive hearing impairment Joint stiffness Gastroesophageal reflux Cleft upper lip Multiple exostoses Talipes Genu valgum Beaking of vertebral bodies Abnormality of the dentition Insulin-resistant diabetes mellitus Genu recurvatum Increased number of teeth Hyperinsulinemia Intellectual disability, severe Acanthosis nigricans EEG abnormality Long philtrum Hypoplasia of the odontoid process Coarse facial features Hypospadias Clinodactyly of the 5th finger Talipes equinovarus Type II diabetes mellitus Narrow forehead Macroglossia Macrotia Hypoplastic nasal bridge Gynecomastia Toe syndactyly Short toe Hypoglycemia Microdontia Blue sclerae Depressed nasal ridge Recurrent urinary tract infections Sparse scalp hair Short long bone Hypohidrosis Ectodermal dysplasia Aplasia/Hypoplasia involving the nose Reduced number of teeth High pitched voice Prematurely aged appearance Underdeveloped supraorbital ridges Abnormality of the elbow Neurological speech impairment Synophrys Intrauterine growth retardation Cognitive impairment Bulbous nose Hypertriglyceridemia Taurodontia Aplasia/Hypoplasia of the corpus callosum Microcornea Open mouth Abnormal form of the vertebral bodies Sleep disturbance Retinal detachment Stereotypy Hoarse voice Renal hypoplasia/aplasia Anxiety Tented upper lip vermilion Precocious puberty Failure to thrive in infancy Hand polydactyly Chronic otitis media Feeding difficulties in infancy Impaired pain sensation Decreased fetal movement Abnormality of the ureter Panhypopituitarism Constipation Narrow palpebral fissure Cortical dysplasia Open bite Large hands Cubitus valgus Cachexia Relative macrocephaly Sandal gap Short thumb Abnormality of the musculature Broad-based gait Thick lower lip vermilion Intention tremor Interphalangeal joint contracture of finger Decreased testicular size Memory impairment Small hand Cortical gyral simplification Cerebellar vermis atrophy Hyporeflexia Abnormality of earlobe Midface retrusion Frontal bossing Peripheral neuropathy Abnormality of toe Moderately short stature Mood swings Small earlobe Abdominal obesity Biparietal narrowing Large face Tics Abnormal hair pattern Distal lower limb amyotrophy Down-sloping shoulders Scaphocephaly Restlessness Striae distensae Abnormal localization of kidney Hydrometrocolpos Delayed eruption of primary teeth Heterotopia Radioulnar synostosis Laryngomalacia Abnormality of the genitourinary system Scrotal hypoplasia Intellectual disability, progressive Multicystic kidney dysplasia Knee flexion contracture Congenital hip dislocation Short phalanx of finger Fine hair Bilateral talipes equinovarus Full cheeks Wide nose Pulmonary hypoplasia Arthrogryposis multiplex congenita Severe global developmental delay Abnormality of the kidney Apnea Hydronephrosis Kyphoscoliosis Clitoral hypertrophy Ectopic kidney Osteoporosis Hypoplastic ischia Scrotal hypospadias Enlarged labia minora Absent scrotum Small scrotum Tongue thrusting Abnormal bone structure Periventricular gray matter heterotopia Talipes calcaneovalgus Clitoral hypoplasia Calcaneovalgus deformity Anteriorly placed anus Primary hypothyroidism Patellar hypoplasia Colpocephaly Labial hypoplasia Patellar aplasia Hypoplastic ilia Hypoplastic labia majora Short columella Patellar dislocation Hip contracture Polyhydramnios Agenesis of corpus callosum Hyperacusis Vesicoureteral reflux Deep philtrum Recurrent upper respiratory tract infections Abnormal palate morphology Scapular winging Joint dislocation Bilateral single transverse palmar creases Bone pain Exotropia Hip dysplasia Nevus Preaxial polydactyly Thick eyebrow Finger syndactyly Stroke Sparse hair Protruding ear Low-set, posteriorly rotated ears Thin upper lip vermilion Polydactyly Corticospinal tract hypoplasia Abnormal tracheobronchial morphology Redundant skin Cone-shaped epiphysis Patent ductus arteriosus Persistent cloaca Edema Atrial septal defect Dysphagia Feeding difficulties Low-set ears Redundant skin in infancy Multiple long-bone exostoses Scapular exostoses Rib exostoses Mild postnatal growth retardation Cone-shaped epiphyses of the phalanges of the hand Aplasia/Hypoplasia of the mandible Absent toe Blepharophimosis Prune belly Thick nasal alae Vaginal atresia Avascular necrosis of the capital femoral epiphysis Oligospermia Fragile nails Spinal cord compression Camptodactyly of finger Camptodactyly Wide mouth Decreased skull ossification Arthralgia Skeletal dysplasia Osteopenia Cutaneous syndactyly between fingers 2 and 5 Parietal foramina Congenital ptosis Craniofacial dysostosis Sparse lateral eyebrow Depressed nasal tip Hyperlordosis Turricephaly Aniridia Nephroblastoma Sparse eyebrow Cutaneous syndactyly Wormian bones Underdeveloped nasal alae Broad nasal tip Arthritis Platyspondyly Telecanthus Rhizomelia Rickets Scaling skin Metaphyseal widening Epiphyseal dysplasia Genu varum Disproportionate short-limb short stature Hypogonadotrophic hypogonadism Abnormal vertebral morphology Abnormality of epiphysis morphology Micromelia Abnormality of the metaphysis Lumbar hyperlordosis Bilateral sensorineural hearing impairment Limb undergrowth Waddling gait Short metacarpal Sensory neuropathy Short distal phalanx of finger Autistic behavior Autism Spondyloepiphyseal dysplasia Subcutaneous nodule Prolactin excess Ketoacidosis Growth hormone excess Generalized hyperpigmentation Polycystic ovaries Accelerated skeletal maturation Generalized hirsutism Insulin resistance Hypertrichosis Menstrual irregularities Epidermal acanthosis Muscle cramps Hirsutism Carious teeth Hyperkeratosis Diabetes mellitus Abnormality of the endocrine system Abnormality of the skull Macroorchidism Generalized hypertrichosis Cataract Increased body weight Nystagmus Lymphoid interstitial pneumonia Delayed menarche Immune dysregulation Concave nasal ridge Proportionate short stature External genital hypoplasia Keratitis Lymphopenia Neoplasm Chronic diarrhea Abnormal lung morphology Eczema Progressive visual loss Prominent forehead Pneumonia Recurrent infections Diarrhea Respiratory distress Metaphyseal irregularity Bowing of the legs Abnormality of the pinna Mild short stature Large earlobe Widow's peak Short 5th finger Broad foot Shawl scrotum Macrocytic anemia Broad palm Interstitial pulmonary abnormality Radial deviation of finger Broad philtrum Increased intracranial pressure Lymphedema Generalized-onset seizure Round face Hypoplasia of the maxilla Hypodontia Cirrhosis Pulmonic stenosis Volvulus Hyperextensibility of the finger joints Umbilical hernia Hypertonia Intellectual disability, moderate Aggressive behavior Gait ataxia Hypogonadism Hyperhidrosis Pes cavus Absent speech Immunodeficiency Hypoplasia of the corpus callosum Osteochondritis Dissecans Tremor Macrocephaly Skeletal muscle atrophy High palate Cervical spine hypermobility Curved linear dimple below the lower lip Increased upper to lower segment ratio Prominent umbilicus Frontoparietal polymicrogyria Hypermetropia Abdominal pain Flared metaphysis Enlarged joints Carpal bone hypoplasia Myelopathy Ulnar deviation of the hand Decreased serum estradiol Small epiphyses Irregular epiphyses Decreased serum testosterone level Intestinal polyposis Multiple epiphyseal dysplasia Decreased testosterone in males Delayed epiphyseal ossification Upper limb undergrowth Spinal canal stenosis Abnormal joint morphology Metaphyseal dysplasia Disproportionate short stature Abnormality of the hip bone Limited elbow extension Hamartomatous polyposis Atlantoaxial dislocation Clinodactyly Radial metaphyseal irregularity Pectus excavatum Depressivity Hernia Hepatomegaly Small epiphyses of the phalanges of the hand Spatulate ribs Fragmented, irregular epiphyses Ulnar metaphyseal irregularity Fragmented epiphyses Ulnar deviation of the wrist Lumbar spinal canal stenosis Childhood onset short-limb short stature Limited hip extension Irregular carpal bones Flared femoral metaphysis Cervical cord compression Cervical instability Premature osteoarthritis Cervical myelopathy Hypoplastic inferior pubic rami



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