User Posts: Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
0
Cassia Stocco Dos Santos Syndrome
1

Cassia Stocco dos Santos syndrome is an extremely rare condition present from birth that affects several body systems at the same time. Babies with this ...

0
Anophthalmia–Megalocornea–Cardiopathy–Skeletal Anomalies (AMCS) Syndrome
1

Anophthalmia–Megalocornea–Cardiopathy–Skeletal Anomalies (AMCS) syndrome is a multiple congenital anomalies disorder. Babies are born with a pattern of ...

0
Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies Syndrome (AMCS)
1

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome (AMCS) is an extremely rare, multisystem genetic condition present from birth. It combines ...

0
Mmicrophthalmia with Facial Clefting
1

Microphthalmia means a baby is born with one or both eyes that are abnormally small because eye development was interrupted before birth. It exists on a ...

0
Fryns Microphthalmia Syndrome
1

Fryns microphthalmia syndrome is a very rare genetic condition in which a baby is born with absent eyes (anophthalmia) or very small eyes (microphthalmia) plus ...

0
Anophthalmia-Plus Syndrome
1

Anophthalmia-Plus Syndrome is a very rare multiple congenital anomaly condition in which a baby is born with no eyes (anophthalmia) or very small eyes (severe ...

0
Kumar–Levick Syndrome
1

Kumar–Levick syndrome is an old eponym used in the limb-malformation literature for a family in which several members had striking nail underdevelopment or ...

0
Anonychia Onychodystrophy with Brachydactyly Type B and Ectrodactyly
1

Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly is a very rare, inherited hand/foot difference. People have missing or severely ...

0
Anonychia–Onychodystrophy Syndrome (AOS)
1

Anonychia–onychodystrophy syndrome is a very rare, inherited nail-development disorder. In this condition, some or all fingernails and toenails are missing ...

0
Teebi-Kaurah Syndrome
1

Teebi-Kaurah syndrome is a very rare genetic condition present from birth. The two hallmark features are: (1) total absence of fingernails and toenails (the ...

0
Anonychia Microcephaly Syndrome
1

Anonychia-microcephaly syndrome is a rare, likely genetic condition marked by the complete absence of nails and a small head size from birth, sometimes with ...

0
Anonychia with Flexural Pigmentation
1

Anonychia means missing or very under-developed nails on fingers and toes. It can be present from birth (congenital) or happen later in life (acquired) after ...

0
Total Anodontia of the Permanent and Deciduous (Baby) Teeth
1

Total anodontia of the permanent and deciduous (baby) teeth means a person is born without any natural teeth at all—no primary (baby) teeth and no permanent ...

0
Oligodontia
1

Oligodontia means being born without six or more permanent teeth (not counting wisdom teeth). It sits on the severe end of the “tooth agenesis” spectrum (few ...

0
Hypodontia
1

Hypodontia means that one or more teeth never develop. It is a developmental condition—those teeth are absent from birth rather than lost later. Dentists ...

0
Tooth Agenesis
1

Tooth agenesis means one or more teeth never formed from birth. It ranges from hypodontia (1–5 missing permanent teeth, excluding wisdom teeth), to oligodontia ...

0
Developmental Absence of Tooth
1

Developmental absence of tooth means one or more teeth never form at all during early development. This is different from teeth that were present and later ...

0
Complete Absence of Teeth
1

Complete absence of teeth means a person has no natural teeth at all. The baby teeth never develop, and the adult teeth never develop either. Dentists call ...

0
Anodontia
1

Anodontia means a person is born without any teeth at all. It is the most severe form of tooth agenesis, which is a developmental problem where teeth fail to ...

0
Annular Pancreas
1

Annular pancreas is a rare birth difference where a ring (or partial ring) of pancreatic tissue grows around the second part of the duodenum (the first part of ...

Browsing All Comments By: Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
    RxHarun
    Logo